Individual #00000414

Reference	Wei Xiong Wen et al. (2018)
Gender	-
Geographic origin	Malaysia
Ethnic origin	Chinese
Population	-
Remarks	-
Microattribution	-
Panel size	1
Diseases	BRCA2
Owner name	Nuur Athirah Binti Mohd Daud
Database submission license
Created by	Nuur Athirah Binti Mohd Daud

No phenotypes found for this individual!

Screenings

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DNA
RNA = RNA (cDNA)
Protein
? = unknown

Technique: Technique(s) used to identify the sequence variant.
All options:

? = Unknown
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting

How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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Screening ID	Template	Technique	Genes screened	Variants found	Owner
0000000431	DNA	MLPA;SEQ-NG-I	BRCA2	44	Nuur Athirah Binti Mohd Daud

Variants

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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.

Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.

DNA change (genomic) (hg38): Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).

g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup

Published as: Variant as originally reported (e.g. 521delT); listed only when different from "DNA change". Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G).

Reference: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".

DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.

dbSNP ID: The dbSNP ID.

Frequency: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).

Variant remarks: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.

Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.

DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.

Published as: Variant as originally reported (e.g. 521delT); listed only when different from "DNA change". Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G).

RNA change: Description of variant at RNA level (following HGVS recommendations).

r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription

Protein: Description of variant at protein level (following HGVS recommendations).

p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced

GVS function: The functional annotation of this position from the Genome Variation Server.
All options:

intergenic
near-gene-5
utr-5
start-lost
coding
non-coding-exon
coding-near-splice
non-coding-exon-near-splice
coding-synonymous
coding-synonymous-near-splice
codingComplex
codingComplex-near-splice
frameshift
frameshift-near-splice
missense
missense-near-splice
splice-5
splice
non-coding-intron-near-splice
intron
splice-3
stop-gained
stop-gained-near-splice
stop-lost
stop-lost-near-splice
utr-3
near-gene-3

Clinical classification: Clinical classification of variant

44 entries on 1 page. Showing entries 1 - 44.

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How to query

Chr	Allele	Effect	DNA change (genomic) (hg38)	Published as	Reference	DB-ID	dbSNP ID	Frequency	Variant remarks	Owner	Gene	Exon	DNA change (cDNA)	Published as	RNA change	Protein	GVS function	Clinical classification
13	Unknown	+/.	g.32316421_32316422del	c.-39-1_-39delGA	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000140	rs758732038	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.-39-1_-39del	c.-39-1_-39delGA	r.spl?	p.?	-	Likely pathogenic
13	Unknown	+/.	g.32326614G>A	-	Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0033), ClinVar	BRCA2_000141	rs81002897	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.631+1G>A	-	r.spl?	p.?	-	Pathogenic
13	Unknown	+/.	g.32331011_32331012delAA	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000131	rs75096777	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.774_775delAA	-	r.(?)	p.(Glu260Serfs*15)	-	Pathogenic
13	Unknown	+/.	g.32332287C>G	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000125	rs276174902	2/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.809C>G	-	r.(?)	p.(Ser270*)	-	Pathogenic
13	Unknown	+/.	g.32332434dupA	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000002	rs80359770	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.956dupA	-	r.(?)	p.(Asn319Lysfs*8)	-	Pathogenic
13	Unknown	+/.	g.32333251_32333254del	c.1773_1776delTTAT	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000097	rs80359304	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.1773_1776del	c.1773_1776delTTAT	r.(?)	p.(Ile591Metfs*22)	-	Pathogenic
13	Unknown	+/.	g.32336950del	2595delA	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000100	rs483353111	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.2595del	2595delA	r.(?)	p.(Glu866Lysfs*8)	-	Pathogenic
13	Unknown	+/.	g.32336967C>A	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000142	rs397507634	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.2612C>A	-	r.(?)	p.(Ser871*)	-	Pathogenic
13	Unknown	+/.	g.32337163_32337166del	2808_2811delACAA	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000068	rs80359351	2/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.2808_2811del	2808_2811delACAA	r.(?)	p.(Ala938Profs*21)	-	Pathogenic
13	Unknown	+/.	g.32337185A>T	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000102	rs80358533	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.2830A>T	-	r.(?)	p.(Lys944*)	-	Pathogenic
13	Unknown	+/.	g.32337464C>T	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000054	rs80358557	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.3109C>T	-	r.(?)	p.(Gln1037*)	-	Pathogenic
13	Unknown	+/.	g.32337746A>G	-	Wei Xiong Wen et al. (2018), ClinVar	BRCA2_000156	-	1/1726	VUS (variants of unknown significance)	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.3391A>G	-	r.(?)	p.(Arg1131Gly)	missense	Uncertain significance
13	Unknown	+/.	g.32338202_32338203del	3847_3848delGT	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000143	rs80359405	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.3847_3848del	3847_3848delGT	r.(?)	p.(Val1283Lysfs*2)	-	Pathogenic
13	Unknown	+/.	g.32338277G>T	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000144	rs80358638	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.3922G>T	-	r.(?)	p.(Glu1308*)	-	Pathogenic
13	Unknown	+/.	g.32338312_32338313del	3957_3958delTG	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000105	rs886040504	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.3957_3958del	3957_3958delTG	r.(?)	p.(Asn1319Lysfs*3)	-	Pathogenic
13	Unknown	+/.	g.32338822_32338829delinsTGTTTTT	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000109	rs886040533	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.4467_4474delinsTGTTTTT	-	r.(?)	p.(Lys1489Asnfs*15)	-	Pathogenic
13	Unknown	+/.	g.32338880C>T	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000110	rs80358683	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.4525C>T	-	r.(?)	p.(Gln1509*)	-	Pathogenic
13	Unknown	+/.	g.32339227_32339228delTG	-	Wei Xiong Wen et al. (2018)	BRCA2_000145	-	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.4872_4873delTG	-	r.(?)	p.(Glu1625Lysfs*13)	-	-
13	Unknown	+/.	g.32339428dupA	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000134	rs80359479	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.5073dupA	-	r.(?)	p.(Trp1692Metfs*3)	-	Pathogenic
13	Unknown	+/.	g.32339931_32339934del	5576_5579delTTAA	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000065	rs80359520	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.5576_5579del	5576_5579delTTAA	r.(?)	p.(Ile1859Lysfs*3)	-	Pathogenic
13	Unknown	+/.	g.32340000C>A	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000114	rs80358785	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.5645C>A	-	r.(?)	p.(Ser1882*)	-	Pathogenic
13	Unknown	+/.	g.32340036dupA	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000146	rs80359527	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.5681dupA	-	r.(?)	p.(Tyr1894*)	-	Pathogenic
13	Unknown	+/.	g.32340680_32340681delGT	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000008	rs276174871	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.6325_6326delGT	-	r.(?)	p.(Val2109*)	-	Pathogenic
13	Unknown	+/.	g.32340760_32340764del	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000147	rs80359584	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.6405_6409del	-	r.(?)	p.(Asn2135Lysfs*3)	-	Pathogenic
13	Unknown	+/.	g.32340946_32340947del	6591_6592delTG	Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0003), ClinVar	BRCA2_000148	rs80359605	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.6591_6592del	6591_6592delTG	r.(?)	p.(Glu2198Asnfs*4)	-	Pathogenic
13	Unknown	+/.	g.32341028delA	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000009	rs276174875	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.6673delA	-	r.(?)	p.(Thr2225Glnfs*4)	-	Pathogenic
13	Unknown	+/.	g.32346896G>T	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000149	rs28897743	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.7007G>T	-	r.(?)	p.(Arg2336Leu)	-	Pathogenic
13	Unknown	+/.	g.32355232_32355235del	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000150	rs80359648	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.7379_7382del	7379_7382delACAA	r.(?)	p.(Asn2460Thrfs*6)	-	Pathogenic
13	Unknown	+/.	g.32356514G>A	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000087	rs80358978	5/1762	VUS (variants of unknown significance)	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.7522G>A	-	r.(?)	p.(Gly2508Ser)	missense	Uncertain significance
13	Unknown	+/.	g.32356550C>T	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000057	rs80358981	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.7558C>T	-	r.(?)	p.(Arg2520*)	-	Pathogenic
13	Unknown	+/.	g.32357753T>G	-	Wei Xiong Wen et al. (2018)	BRCA2_000151	-	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.7629T>G	-	r.(?)	p.(Tyr2543*)	-	-
13	Unknown	+/.	g.32362694G>A	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000040	rs81002873	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.7976+1G>A	-	r.spl?	p.?	-	Pathogenic
13	Unknown	+/.	g.32363225A>G	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000086	rs397507954	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.8023A>G	-	r.(?)	p.(Ile2675Val)	-	Pathogenic
13	Unknown	+/.	g.32363403C>T	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000157	rs876658732	1/1726	VUS (variants of unknown significance)	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.8201C>T	-	r.(?)	p.(Pro2734Leu)	missense	Uncertain significance
13	Unknown	+/.	g.32363436_32363439del	8234_8237delTGAC	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000126	rs80359699	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.8234_8237del	8234_8237delTGAC	r.(?)	p.(Leu2745Glnfs*31)	-	Pathogenic
13	Unknown	+/.	g.32376739G>A	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000034	rs80359129	4/1762	VUS (variants of unknown significance)	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.8702G>A	-	r.(?)	p.(Gly2901Asp)	missense	Benign
13	Unknown	+/.	g.32379893A>C	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000158	rs766308212	2/1726	VUS (variants of unknown significance)	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.9097A>C	-	r.(?)	p.(Thr3033Pro)	missense	Uncertain significance
13	Unknown	+/.	g.32379893del	9097delA	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000069	rs397507419	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.9097del	9097delA	r.(?)	p.(Thr3033Leufs*29)	-	Pathogenic
13	Unknown	+/.	g.32379893dupA	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000152	rs397507419	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.9097dupA	-	r.(?)	p.(Thr3033Asnfs*11)	-	Pathogenic
13	Unknown	+/.	g.32379894_32379895insA	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000012	rs80359747	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.9098_9099insA	-	r.(?)	p.(Gln3034Serfs*10)	-	Pathogenic
13	Unknown	+/.	g.32379900A>G	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000035	rs80359165	3/1762	VUS (variants of unknown significance)	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.9104A>G	-	r.(?)	p.(Tyr3035Cys)	missense	Uncertain significance / Likely benign
13	Unknown	+/.	g.32394726C>A	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000154	rs80359200	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.9294C>A	-	r.(?)	p.(Tyr3098*)	-	Pathogenic
13	Unknown	+/.	g.32394726C>G	-	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000153	rs80359200	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.9294C>G	-	r.(?)	p.(Tyr3098*)	-	Pathogenic
13	Unknown	+/.	g.32394762dup	9330dupT	Wei Xiong Wen et al. (2018), dbSNP, ClinVar	BRCA2_000155	rs1555289529	1/1726	-	Nuur Athirah Binti Mohd Daud	BRCA2	-	NM_000059.3:c.9330dup	9330dupT	r.(?)	p.(Glu3111*)	-	Pathogenic

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