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NM_000059.4(BRCA2):c.2632G>C (p.Asp878His) AND Familial cancer of breast

Germline classification:
risk factor (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001005029.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.2632G>C (p.Asp878His)]

NM_000059.4(BRCA2):c.2632G>C (p.Asp878His)

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.2632G>C (p.Asp878His)
HGVS:
  • NC_000013.11:g.32336987G>C
  • NG_012772.3:g.26508G>C
  • NM_000059.4:c.2632G>CMANE SELECT
  • NP_000050.2:p.Asp878His
  • NP_000050.3:p.Asp878His
  • LRG_293t1:c.2632G>C
  • LRG_293:g.26508G>C
  • LRG_293p1:p.Asp878His
  • NC_000013.10:g.32911124G>C
  • NC_000013.10:g.32911124G>C
  • NM_000059.3:c.2632G>C
Protein change:
D878H
Links:
dbSNP: rs1593897379
NCBI 1000 Genomes Browser:
rs1593897379
Molecular consequence:
  • NM_000059.4:c.2632G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000987288Center of Medical Genetics and Primary Health Care
no assertion criteria provided
risk factorgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes21not providednot providednot providedresearch

Details of each submission

From Center of Medical Genetics and Primary Health Care, SCV000987288.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not provided1not provided

Last Updated: Nov 3, 2024