NM_000059.4(BRCA2):c.1189C>T AND Familial cancer of breast

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000585716.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.1189C>T]

NM_000059.4(BRCA2):c.1189C>T

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.1189C>T
HGVS:
  • NC_000013.11:g.32332667C>T
  • NG_012772.3:g.22188C>T
  • NM_000059.3:c.1189C>T
  • NM_000059.4:c.1189C>TMANE SELECT
  • NP_000050.2:p.Gln397Ter
  • LRG_293t1:c.1189C>T
  • LRG_293:g.22188C>T
  • LRG_293p1:p.Gln397Ter
  • NC_000013.10:g.32906804C>T
Protein change:
Q397*
Links:
dbSNP: rs760815829
NCBI 1000 Genomes Browser:
rs760815829
Molecular consequence:
  • NM_000059.3:c.1189C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; CHEK2-Related Breast Cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000693555GeneKor MSAcriteria provided, single submitter
Pathogenic
(Jan 1, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 GeneKor MSA, SCV000693555.3

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

Description

This variant is a single amino acid change from Glutamine to a premature translational stop signal at codon 397 of the BRCA2 protein. This is expected to result in an absent or disrupted protein product. Truncating variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747). The mutation database ClinVar contains entries for this variant (Variation ID: 236829).

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

Last Updated: Sep 18, 2021

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