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NM_000465.4(BARD1):c.623del (p.Lys208fs) AND Malignant tumor of breast

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 20, 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:
RCV003479516.1

Allele description [Variation Report for NM_000465.4(BARD1):c.623del (p.Lys208fs)]

NM_000465.4(BARD1):c.623del (p.Lys208fs)

Gene:
BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000465.4(BARD1):c.623del (p.Lys208fs)
HGVS:
  • NC_000002.12:g.214781257del
  • NG_012047.3:g.33461del
  • NM_000465.4:c.623delMANE SELECT
  • NM_001282543.2:c.566del
  • NM_001282545.2:c.215+15810del
  • NM_001282548.2:c.158+28161del
  • NM_001282549.2:c.364+11046del
  • NP_000456.2:p.Lys208fs
  • NP_001269472.1:p.Lys189fs
  • LRG_297t1:c.623del
  • LRG_297:g.33461del
  • LRG_297p1:p.Lys208fs
  • NC_000002.11:g.215645981del
  • NM_000465.2:c.623del
  • NM_000465.4:c.623delAMANE SELECT
  • NR_104212.2:n.588del
  • NR_104215.2:n.531del
Protein change:
K189fs
Molecular consequence:
  • NM_000465.4:c.623del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282543.2:c.566del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282545.2:c.215+15810del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+28161del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+11046del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_104212.2:n.588del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.531del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004222909Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Nov 20, 2023) 		germlineclinical testing

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, SCV004222909.1

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

Description

Variant summary: BARD1 c.623delA (p.Lys208ArgfsX4) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 230912 control chromosomes. To our knowledge, no occurrence of c.623delA in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Sep 8, 2024