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NM_000059.4(BRCA2):c.4127G>T (p.Gly1376Val) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 26, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001788090.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.4127G>T (p.Gly1376Val)]

NM_000059.4(BRCA2):c.4127G>T (p.Gly1376Val)

Gene:
BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.4(BRCA2):c.4127G>T (p.Gly1376Val)
HGVS:
  • NC_000013.11:g.32338482G>T
  • NG_012772.3:g.28003G>T
  • NM_000059.4:c.4127G>TMANE SELECT
  • NP_000050.2:p.Gly1376Val
  • NP_000050.3:p.Gly1376Val
  • LRG_293t1:c.4127G>T
  • LRG_293:g.28003G>T
  • LRG_293p1:p.Gly1376Val
  • NC_000013.10:g.32912619G>T
  • NM_000059.3:c.4127G>T
Protein change:
G1376V
Links:
dbSNP: rs780458959
NCBI 1000 Genomes Browser:
rs780458959
Molecular consequence:
  • NM_000059.4:c.4127G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002030205Baylor Genetics - CSER-TexasKidsCanSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 26, 2021) 		paternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics - CSER-TexasKidsCanSeq, SCV002030205.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024