NM_000059.3(BRCA2):c.442T>C (p.Cys148Arg) AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Mar 25, 2008)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000077325.3

Allele description [Variation Report for NM_000059.3(BRCA2):c.442T>C (p.Cys148Arg)]

NM_000059.3(BRCA2):c.442T>C (p.Cys148Arg)

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.442T>C (p.Cys148Arg)
HGVS:
  • NC_000013.11:g.32326117T>C
  • NG_012772.3:g.15638T>C
  • NM_000059.3:c.442T>C
  • NP_000050.2:p.Cys148Arg
  • LRG_293t1:c.442T>C
  • LRG_293:g.15638T>C
  • LRG_293p1:p.Cys148Arg
  • NC_000013.10:g.32900254T>C
  • NM_000059.4:c.442T>CMANE SELECT
  • U43746.1:n.670T>C
Nucleotide change:
670T>C
Protein change:
C148R
Links:
dbSNP: rs80358677
NCBI 1000 Genomes Browser:
rs80358677
Molecular consequence:
  • NM_000059.3:c.442T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000109122Sharing Clinical Reports Project (SCRP)no assertion criteria providedUncertain significance
(Mar 25, 2008)
germlineclinical testing

SCV000146870Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Feb 20, 2004)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000109122.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146870.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 18, 2021

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