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NM_000059.3(BRCA2):c.7651A>C (p.Lys2551Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000091488.8
Variation ID:
91488
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.7651A>C (p.Lys2551Gln)

Allele ID
96965
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32357775 (GRCh38) GRCh38 UCSC
13: 32931912 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.11:g.32357775A>C
NC_000013.10:g.32931912A>C
NM_000059.3:c.7651A>C NP_000050.2:p.Lys2551Gln missense
... more HGVS
Protein change
K2551Q
Other names
p.K2551Q:AAA>CAA
7879A>C
Canonical SPDI
NC_000013.11:32357774:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA025213
dbSNP: rs398122587
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Aug 21, 2019 RCV000589630.2
Likely benign 1 criteria provided, single submitter Feb 20, 2018 RCV000160246.4
Likely benign 1 criteria provided, single submitter Dec 4, 2020 RCV000476389.7
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Feb 25, 2020 RCV000132265.5
Likely benign 1 no assertion criteria provided Jan 11, 2012 RCV000077005.2
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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
13713 13826

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 04, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695090.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (1)
Comment:
Variant Summary: The c.7651A>C variant involves the alteration of a non-conserved nucleotide and 4/4 in silico tools predict a neutral outcome. The variant is absent … (more)
Likely benign
(Jan 02, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000187348.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign)
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000549845.7
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Likely benign
(Feb 20, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000210661.11
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)
Uncertain significance
(Aug 21, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600763.2
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (2)
Uncertain significance
(Feb 25, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001340259.1
Submitted: (May 19, 2020)
Comment:
This missense variant replaces lysine with glutamine at codon 2551 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
Evidence details
Likely benign
(Jan 11, 2012)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Sharing Clinical Reports Project (SCRP)
Accession: SCV000108802.2
Submitted: (Jun 26, 2013)
Evidence details

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
A Bayesian framework for efficient and accurate variant prediction. Qian D PloS one 2018 PMID: 30212499
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
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. Martelotto LG Genome biology 2014 PMID: 25348012

Text-mined citations for rs398122587...

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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