NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val) AND Breast-ovarian cancer, familial 2

Clinical significance:Uncertain significance (Last evaluated: Nov 17, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000031666.5

Allele description [Variation Report for NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)]

NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)

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.7102T>G (p.Leu2368Val)
HGVS:
  • NC_000013.11:g.32354955T>G
  • NG_012772.3:g.44476T>G
  • NM_000059.3:c.7102T>G
  • NM_000059.4:c.7102T>GMANE SELECT
  • NP_000050.2:p.Leu2368Val
  • NP_000050.3:p.Leu2368Val
  • LRG_293t1:c.7102T>G
  • LRG_293:g.44476T>G
  • LRG_293p1:p.Leu2368Val
  • NC_000013.10:g.32929092T>G
  • p.L2368V
Nucleotide change:
7330T>G
Protein change:
L2368V
Links:
dbSNP: rs397507382
NCBI 1000 Genomes Browser:
rs397507382
Molecular consequence:
  • NM_000059.3:c.7102T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000059.4:c.7102T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
7

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
SCV000054273Sharing Clinical Reports Project (SCRP)no assertion criteria providedBenign
(Nov 8, 2011)

History

germlineclinical testing

SCV000487804Counsylcriteria provided, single submitter
Uncertain significance
(Nov 17, 2015)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided7not providednot provided7not providedclinical testing

Citations

PubMed

Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population.

Carney ME, Basiliere MS, Mates K, Sing CK.

Hawaii Med J. 2010 Nov;69(11):268-71.

PubMed [citation]
PMID:
21218378
PMCID:
PMC3071188

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054273.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided7not providednot providednot providednot providednot providednot provided

From Counsyl, SCV000487804.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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