NM_000059.3(BRCA2):c.7651A>C (p.Lys2551Gln) AND Breast-ovarian cancer, familial 2

Clinical significance:Likely benign (Last evaluated: Jan 11, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000077005.2

Allele description [Variation Report for NM_000059.3(BRCA2):c.7651A>C (p.Lys2551Gln)]

NM_000059.3(BRCA2):c.7651A>C (p.Lys2551Gln)

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.7651A>C (p.Lys2551Gln)
Other names:
p.K2551Q:AAA>CAA
HGVS:
  • NC_000013.11:g.32357775A>C
  • NG_012772.3:g.47296A>C
  • NM_000059.3:c.7651A>C
  • NP_000050.2:p.Lys2551Gln
  • LRG_293t1:c.7651A>C
  • LRG_293:g.47296A>C
  • LRG_293p1:p.Lys2551Gln
  • NC_000013.10:g.32931912A>C
  • p.K2551Q
Nucleotide change:
7879A>C
Protein change:
K2551Q
Links:
dbSNP: rs398122587
NCBI 1000 Genomes Browser:
rs398122587
Molecular consequence:
  • NM_000059.3:c.7651A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:
MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000108802Sharing Clinical Reports Project (SCRP)no assertion criteria providedLikely benign
(Jan 11, 2012)

History

germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000108802.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided2not providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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