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NM_000059.3(BRCA2):c.9311A>G (p.Lys3104Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 30, 2018)
Last evaluated:
Jun 24, 2016
Accession:
VCV000417626.1
Variation ID:
417626
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.9311A>G (p.Lys3104Arg)

Allele ID
404604
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32394743 (GRCh38) GRCh38 UCSC
13: 32968880 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32968880A>G
NC_000013.11:g.32394743A>G
NM_000059.3:c.9311A>G NP_000050.2:p.Lys3104Arg missense
... more HGVS
Protein change
K3104R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA16616711
dbSNP: rs956554593
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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 Jun 24, 2016 RCV000563366.1
Uncertain significance 1 no assertion criteria provided Feb 1, 2017 RCV000461266.1
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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
11030 11116

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 24, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000666068.2
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient evidence
Uncertain significance
(Feb 01, 2017)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
(Autosomal dominant inheritance)
Allele origin: unknown
MVZ Praenatalmedizin und Genetik Nuernberg
Accession: SCV000494286.1
Submitted: (Apr 13, 2017)
Evidence details
Comment:
Rare variant (ExAC: no entry). Different in silico analyses show contradicting results.

Citations for this variant

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

Record last updated Jan 09, 2020