NM_000059.4(BRCA2):c.4698C>T (p.Thr1566=) AND Breast-ovarian cancer, familial 2

Clinical significance:Likely benign (Last evaluated: Jun 29, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000410378.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.4698C>T (p.Thr1566=)]

NM_000059.4(BRCA2):c.4698C>T (p.Thr1566=)

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.4698C>T (p.Thr1566=)
HGVS:
  • NC_000013.11:g.32339053C>T
  • NG_012772.3:g.28574C>T
  • NM_000059.3:c.4698C>T
  • NM_000059.4:c.4698C>TMANE SELECT
  • NP_000050.2:p.Thr1566=
  • NP_000050.3:p.Thr1566=
  • LRG_293t1:c.4698C>T
  • LRG_293:g.28574C>T
  • LRG_293p1:p.Thr1566=
  • NC_000013.10:g.32913190C>T
  • p.T1566T
  • p.Thr1566Thr
Links:
dbSNP: rs750813972
NCBI 1000 Genomes Browser:
rs750813972
Molecular consequence:
  • NM_000059.3:c.4698C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000059.4:c.4698C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000489484Counsylcriteria provided, single submitter
Likely benign
(Oct 11, 2016)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV000578752Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)reviewed by expert panel
Likely benign
(Jun 29, 2017)
germlinecuration

Citation Link

Summary from all submissions

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

Citations

PubMed

Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.

Velasco E, Infante M, Durán M, Esteban-Cardeñosa E, Lastra E, García-Girón C, Miner C.

Electrophoresis. 2005 Jun;26(13):2539-52.

PubMed [citation]
PMID:
15937982

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, Rossi BM, Achatz MI, Carraro DM.

BMC Med Genet. 2014 May 15;15:55. doi: 10.1186/1471-2350-15-55.

PubMed [citation]
PMID:
24884479
PMCID:
PMC4038072

Details of each submission

From Counsyl, SCV000489484.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000578752.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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