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NM_000059.3(BRCA2):c.8572C>A (p.Gln2858Lys) AND Familial cancer of breast

Germline classification:
not provided (1 submission)
Last evaluated:
Feb 1, 2013
Review status:
no classification 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:
RCV000045560.4

Allele description

NM_000059.3(BRCA2):c.8572C>A (p.Gln2858Lys)

Gene:
BRCA2:BRCA2, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.8572C>A (p.Gln2858Lys)
Other names:
p.Q2858K:CAA>AAA
HGVS:
  • NC_000013.11:g.32371040C>A
  • NG_012772.3:g.60561C>A
  • NM_000059.3:c.8572C>A
  • NP_000050.2:p.Gln2858Lys
  • LRG_293t1:c.8572C>A
  • LRG_293:g.60561C>A
  • LRG_293p1:p.Gln2858Lys
  • NC_000013.10:g.32945177C>A
  • U43746.1:n.8800C>A
  • p.Q2858K
Protein change:
Q2858K
Links:
dbSNP: rs80359112
NCBI 1000 Genomes Browser:
rs80359112
Molecular consequence:
  • NM_000059.3:c.8572C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000073573Invitae
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The breast cancer information core: database design, structure, and scope.

Szabo C, Masiello A, Ryan JF, Brody LC.

Hum Mutat. 2000;16(2):123-31.

PubMed [citation]
PMID:
10923033

Details of each submission

From Invitae, SCV000073573.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 7, 2017