NM_000059.3(BRCA2):c.235A>G (p.Ile79Val) AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Jan 31, 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:
RCV000031364.4

Allele description [Variation Report for NM_000059.3(BRCA2):c.235A>G (p.Ile79Val)]

NM_000059.3(BRCA2):c.235A>G (p.Ile79Val)

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.235A>G (p.Ile79Val)
HGVS:
  • NC_000013.11:g.32319244A>G
  • NG_012772.3:g.8765A>G
  • NG_017006.2:g.1120T>C
  • NM_000059.3:c.235A>G
  • NP_000050.2:p.Ile79Val
  • LRG_293t1:c.235A>G
  • LRG_293:g.8765A>G
  • LRG_293p1:p.Ile79Val
  • NC_000013.10:g.32893381A>G
  • U43746.1:n.463A>G
Protein change:
I79V
Links:
dbSNP: rs80358502
NCBI 1000 Genomes Browser:
rs80358502
Molecular consequence:
  • NM_000059.3:c.235A>G - 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
SCV000053969Sharing Clinical Reports Project (SCRP)no assertion criteria providedUncertain significance
(Jan 31, 2008)
germlineclinical testing

SCV000146419Breast Cancer Information Core (BIC) (BRCA2)no assertion criteria providedUncertain significance
(Feb 20, 2004)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053969.3

#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), SCV000146419.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 6, 2021

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