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NM_000465.4(BARD1):c.159-1G>T AND Hereditary breast ovarian cancer syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 7, 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:
RCV000587901.4

Allele description [Variation Report for NM_000465.4(BARD1):c.159-1G>T]

NM_000465.4(BARD1):c.159-1G>T

Gene:
BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000465.4(BARD1):c.159-1G>T
HGVS:
  • NC_000002.12:g.214797118C>A
  • NG_012047.3:g.17594G>T
  • NM_000465.4:c.159-1G>TMANE SELECT
  • NM_001282543.2:c.159-4673G>T
  • NM_001282545.2:c.159-1G>T
  • NM_001282548.2:c.158+12294G>T
  • NM_001282549.2:c.159-1G>T
  • LRG_297t1:c.159-1G>T
  • LRG_297:g.17594G>T
  • NC_000002.11:g.215661842C>A
  • NM_000465.2:c.159-1G>T
  • NM_000465.3:c.159-1G>T
Links:
dbSNP: rs879254139
NCBI 1000 Genomes Browser:
rs879254139
Molecular consequence:
  • NM_001282543.2:c.159-4673G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+12294G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000465.4:c.159-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001282545.2:c.159-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001282549.2:c.159-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000696749Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Feb 7, 2017) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000696749.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: The BARD1 c.159-1G>T variant involves the alteration of a conserved intronic nucleotide. Mutation Taster predicts a damaging outcome for this variant. 4/5 splice prediction tools predict a significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121314 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, however, a clinical diagnostic laboratory classified this variant as likely pathogenic. Taken together, this variant is classified as likely pathogenic.

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

Last Updated: May 12, 2024