NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr) AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Oct 3, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000082961.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)]

NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)

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.6626T>C (p.Ile2209Thr)
HGVS:
  • NC_000013.11:g.32340981T>C
  • NG_012772.3:g.30502T>C
  • NM_000059.4:c.6626T>CMANE SELECT
  • NP_000050.2:p.Ile2209Thr
  • NP_000050.3:p.Ile2209Thr
  • LRG_293t1:c.6626T>C
  • LRG_293:g.30502T>C
  • LRG_293p1:p.Ile2209Thr
  • NC_000013.10:g.32915118T>C
  • NM_000059.3:c.6626T>C
Nucleotide change:
6854T>C
Protein change:
I2209T
Links:
dbSNP: rs431825344
NCBI 1000 Genomes Browser:
rs431825344
Molecular consequence:
  • NM_000059.4:c.6626T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000115035Sharing Clinical Reports Project (SCRP)no assertion criteria providedUncertain significance
(May 1, 2012)
germlineclinical testing

SCV000489418Counsylcriteria provided, single submitter
Uncertain significance
(Oct 3, 2016)
unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115035.3

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

From Counsyl, SCV000489418.1

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

Last Updated: Dec 4, 2021

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