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NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Nov 30, 2020)
Last evaluated:
May 2, 2019
Accession:
VCV000051360.5
Variation ID:
51360
Description:
single nucleotide variant
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NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp)

Allele ID
66028
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32337204 (GRCh38) GRCh38 UCSC
13: 32911341 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_293:g.26725T>A
LRG_293t1:c.2849T>A LRG_293p1:p.Val950Asp
U43746.1:n.3077T>A
... more HGVS
Protein change
V950D
Other names
-
Canonical SPDI
NC_000013.11:32337203:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA016619
dbSNP: rs80358535
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 6, 2016 RCV000587157.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 2, 2019 RCV000222954.2
Uncertain significance 1 no assertion criteria provided Dec 23, 2003 RCV000113105.2
not provided 1 no assertion provided Sep 19, 2013 RCV000120346.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
13784 13899

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 06, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694639.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: The BRCA2 c.2849T>A (p.Val950Asp) variant causes a missense change involving a non-conserved nucleotide with 3/5 in silico tools predicting a "benign" outcome, although … (more)
Likely benign
(Nov 12, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000274233.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other strong data supporting benign classification
Uncertain significance
(May 02, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001358931.1
Submitted: (May 19, 2020)
Evidence details
Uncertain significance
(Dec 23, 2003)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000146130.1
Submitted: (Mar 28, 2014)
Evidence details
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000084498.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins. Infante M Carcinogenesis 2013 PMID: 23929434

Text-mined citations for rs80358535...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021