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NM_000465.4(BARD1):c.1903+1G>C AND Familial cancer of breast

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 24, 2023
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:
RCV003336761.2

Allele description [Variation Report for NM_000465.4(BARD1):c.1903+1G>C]

NM_000465.4(BARD1):c.1903+1G>C

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.1903+1G>C
HGVS:
  • NC_000002.12:g.214745066C>G
  • NG_012047.3:g.69646G>C
  • NM_000465.4:c.1903+1G>CMANE SELECT
  • NM_001282543.2:c.1846+1G>C
  • NM_001282545.2:c.550+1G>C
  • NM_001282548.2:c.493+1G>C
  • NM_001282549.2:c.365-14558G>C
  • LRG_297t1:c.1903+1G>C
  • LRG_297:g.69646G>C
  • NC_000002.11:g.215609790C>G
Molecular consequence:
  • NM_001282549.2:c.365-14558G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000465.4:c.1903+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001282543.2:c.1846+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001282545.2:c.550+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001282548.2:c.493+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004044151Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely pathogenic
(May 24, 2023) 		unknownclinical testing

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 Myriad Genetics, Inc., SCV004044151.2

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

Description

This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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

Last Updated: Sep 16, 2024