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NM_000059.3(BRCA2):c.8011G>T (p.Ala2671Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jun 11, 2021)
Last evaluated:
Oct 18, 2020
Accession:
VCV000185168.7
Variation ID:
185168
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.8011G>T (p.Ala2671Ser)

Allele ID
184007
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32363213 (GRCh38) GRCh38 UCSC
13: 32937350 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32937350G>T
NC_000013.11:g.32363213G>T
NM_000059.3:c.8011G>T NP_000050.2:p.Ala2671Ser missense
... more HGVS
Protein change
A2671S
Other names
-
Canonical SPDI
NC_000013.11:32363212:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA025405
dbSNP: rs786201976
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 18, 2020 RCV001207806.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 26, 2020 RCV000164537.4
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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
13713 13826

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 24, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000215192.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Intact protein function observed in appropriate functional assay(s)
Uncertain significance
(Oct 18, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV001379173.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with serine at codon 2671 of the BRCA2 protein (p.Ala2671Ser). The alanine residue is highly conserved and there is a … (more)
Uncertain significance
(Aug 26, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001348331.2
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces alanine with serine at codon 2671 of the BRCA2 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs786201976...

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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 19, 2021