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NM_000465.4(BARD1):c.540_542del (p.Tyr180_Glu181delinsTer) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 15, 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:
RCV004518515.1

Allele description [Variation Report for NM_000465.4(BARD1):c.540_542del (p.Tyr180_Glu181delinsTer)]

NM_000465.4(BARD1):c.540_542del (p.Tyr180_Glu181delinsTer)

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.540_542del (p.Tyr180_Glu181delinsTer)
HGVS:
  • NC_000002.12:g.214781333_214781335del
  • NG_012047.3:g.33378_33380del
  • NM_000465.4:c.540_542delMANE SELECT
  • NM_001282543.2:c.483_485del
  • NM_001282545.2:c.215+15727_215+15729del
  • NM_001282548.2:c.158+28078_158+28080del
  • NM_001282549.2:c.364+10963_364+10965del
  • NP_000456.2:p.Tyr180_Glu181delinsTer
  • NP_001269472.1:p.Tyr161_Glu162delinsTer
  • LRG_297t1:c.540_542del
  • LRG_297:g.33378_33380del
  • LRG_297p1:p.Tyr180_Glu181delinsTer
  • NC_000002.11:g.215646057_215646059del
  • NM_000465.2:c.540_542delTGA
  • NR_104212.2:n.505_507del
  • NR_104215.2:n.448_450del
Molecular consequence:
  • NM_001282545.2:c.215+15727_215+15729del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+28078_158+28080del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+10963_364+10965del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_104212.2:n.505_507del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.448_450del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000465.4:c.540_542del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282543.2:c.483_485del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005035613Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 15, 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 Ambry Genetics, SCV005035613.1

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

Description

The c.540_542delTGA pathogenic mutation, located in coding exon 4 of the BARD1 gene, results from an in-frame TGA deletion at nucleotide positions 540 to 542. This results in the insertion of an alternate stop codon (p.Y180*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 7, 2024