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NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 24, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000662506.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val)]

NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val)

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.9997C>G (p.Leu3333Val)
HGVS:
  • NC_000013.11:g.32398510C>G
  • NG_012772.3:g.88031C>G
  • NM_000059.4:c.9997C>GMANE SELECT
  • NP_000050.2:p.Leu3333Val
  • NP_000050.3:p.Leu3333Val
  • LRG_293t1:c.9997C>G
  • LRG_293:g.88031C>G
  • LRG_293p1:p.Leu3333Val
  • NC_000013.10:g.32972647C>G
  • NM_000059.3:c.9997C>G
  • p.L3333V
Protein change:
L3333V
Links:
dbSNP: rs567476314
NCBI 1000 Genomes Browser:
rs567476314
Molecular consequence:
  • NM_000059.4:c.9997C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:
Breast-ovarian 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
SCV000785035Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))
Uncertain significance
(Mar 24, 2017)
unknownclinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000785035.2

#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: Sep 29, 2024