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NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(5);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
9 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 12, 2020
Accession:
VCV000141780.10
Variation ID:
141780
Description:
single nucleotide variant
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NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)

Allele ID
151494
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32398499 (GRCh38) GRCh38 UCSC
13: 32972636 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32972636A>G
NC_000013.11:g.32398499A>G
NM_000059.4:c.9986A>G MANE Select NP_000050.3:p.Asn3329Ser missense
... more HGVS
Protein change
N3329S
Other names
-
Canonical SPDI
NC_000013.11:32398498:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA026352
dbSNP: rs76635144
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 30, 2018 RCV000130425.4
Uncertain significance 1 criteria provided, single submitter May 28, 2019 RCV000989093.1
Uncertain significance 1 criteria provided, single submitter Jun 8, 2020 RCV001289567.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 12, 2020 RCV000197376.8
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Dec 26, 2019 RCV000425781.2
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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
14102 14215

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 23, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600886.1
Submitted: (Aug 01, 2017)
Evidence details
Uncertain significance
(Jul 02, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: unknown
Mendelics
Accession: SCV000838915.1
Submitted: (Aug 20, 2018)
Evidence details
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: unknown
Mendelics
Accession: SCV001139282.1
Submitted: (Oct 22, 2019)
Evidence details
Likely benign
(Dec 26, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001361748.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: BRCA2 c.9986A>G (p.Asn3329Ser) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign … (more)
Likely benign
(Nov 30, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000185289.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
In silico models in agreement (benign);Other strong data supporting benign classification
Likely benign
(May 26, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000518147.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Dec 08, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000903016.1
Submitted: (Nov 06, 2018)
Evidence details
Uncertain significance
(Jun 08, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001477524.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The BRCA2 c.9986A>G; p.Asn3329Ser variant (rs76635144) is reported in the literature in a family affected with breast or ovarian cancer, but without clear evidence for … (more)
Likely benign
(Nov 12, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000254229.8
Submitted: (Jan 07, 2021)
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
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help? Zuntini R Frontiers in genetics 2018 PMID: 30254663
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. Kote-Jarai Z British journal of cancer 2011 PMID: 21952622

Text-mined citations for rs76635144...

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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 Jun 14, 2021