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NM_000059.4(BRCA2):c.67+16A>T AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 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:
RCV000662683.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.67+16A>T]

NM_000059.4(BRCA2):c.67+16A>T

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.67+16A>T
HGVS:
  • NC_000013.11:g.32316543A>T
  • NG_012772.3:g.6064A>T
  • NG_017006.2:g.3821T>A
  • NM_000059.4:c.67+16A>TMANE SELECT
  • LRG_293t1:c.67+16A>T
  • LRG_293:g.6064A>T
  • NC_000013.10:g.32890680A>T
  • NG_017006.1:g.412T>A
  • NM_000059.3:c.67+16A>T
Links:
dbSNP: rs529148674
NCBI 1000 Genomes Browser:
rs529148674
Molecular consequence:
  • NM_000059.4:c.67+16A>T - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000785398Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Likely benign
(Jul 24, 2017) 		unknownclinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000785398.2

#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