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NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His) AND Malignant tumor of breast

Germline classification:
Likely benign (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:
RCV001353522.9

Allele description [Variation Report for NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)]

NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)

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.8687G>A (p.Arg2896His)
HGVS:
  • NC_000013.11:g.32376724G>A
  • NG_012772.3:g.66245G>A
  • NM_000059.4:c.8687G>AMANE SELECT
  • NP_000050.2:p.Arg2896His
  • NP_000050.3:p.Arg2896His
  • LRG_293t1:c.8687G>A
  • LRG_293:g.66245G>A
  • LRG_293p1:p.Arg2896His
  • NC_000013.10:g.32950861G>A
  • NM_000059.3:c.8687G>A
  • U43746.1:n.8915G>A
  • p.R2896H
Nucleotide change:
8915G>A
Protein change:
R2896H
Links:
dbSNP: rs80359128
NCBI 1000 Genomes Browser:
rs80359128
Molecular consequence:
  • NM_000059.4:c.8687G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000592222Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Likely benignunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592222.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.Arg2896His variant is listed 3 times in the BIC database. It is listed in dbSNP database as coming from a "clinical source" (ID#: rs80359128) but no frequency information was provided, and so the frequency in the general population is not known. The p.Arg289 residue is not highly conserved in mammals and the variant amino acid histidine (His) is present in rat, mouse and chicken, increasing the likelihood this variant does not have important functional or clinical signficance. In addition, computational analyses (SIFT, PolyPhen2, and AlignGVGD) do not suggest a high likelihood of impact to the protein, but this information is not predictive enough to rule out pathogenicity. In addition, one in-silico study reported this variant as neutral (Karchin 2008). In summary, based on the current information presented above, this variant is predicted benign.

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

Last Updated: Nov 3, 2024