Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000059.3(BRCA2):c.3681G>A (p.Leu1227=)

Help
Interpretation:
Likely benign​

Review status:
reviewed by expert panel
Submissions:
4 (Most recent: Apr 2, 2018)
Last evaluated:
Jun 29, 2017
Accession:
VCV000254783.2
Variation ID:
254783
Description:
single nucleotide variant
Help

NM_000059.3(BRCA2):c.3681G>A (p.Leu1227=)

Allele ID
254847
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32338036 (GRCh38) GRCh38 UCSC
13: 32912173 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32912173G>A
NC_000013.11:g.32338036G>A
NM_000059.3:c.3681G>A NP_000050.2:p.Leu1227= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA6940716
dbSNP: rs758007548
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 reviewed by expert panel Jun 29, 2017 RCV000495596.2
Likely benign 2 criteria provided, multiple submitters, no conflicts May 25, 2016 RCV000248851.2
Likely benign 1 criteria provided, single submitter Dec 5, 2017 RCV000637819.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 29, 2017)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial 2
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000578846.2
Submitted: (Jun 29, 2017)
Evidence details
Comment:
Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000301762.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(May 25, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000528201.4
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 05, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000759298.1
Submitted: (Apr 02, 2018)
Evidence details

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