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NM_000465.4(BARD1):c.733_734insTGGAT (p.Gln245fs) AND Familial cancer of breast

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 19, 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:
RCV003336944.2

Allele description [Variation Report for NM_000465.4(BARD1):c.733_734insTGGAT (p.Gln245fs)]

NM_000465.4(BARD1):c.733_734insTGGAT (p.Gln245fs)

Gene:
BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000465.4(BARD1):c.733_734insTGGAT (p.Gln245fs)
HGVS:
  • NC_000002.12:g.214781140_214781141insATCCA
  • NG_012047.3:g.33571_33572insTGGAT
  • NM_000465.4:c.733_734insTGGATMANE SELECT
  • NM_001282543.2:c.676_677insTGGAT
  • NM_001282545.2:c.215+15920_215+15921insTGGAT
  • NM_001282548.2:c.158+28271_158+28272insTGGAT
  • NM_001282549.2:c.364+11156_364+11157insTGGAT
  • NP_000456.2:p.Gln245fs
  • NP_001269472.1:p.Gln226fs
  • LRG_297t1:c.733_734insTGGAT
  • LRG_297:g.33571_33572insTGGAT
  • LRG_297p1:p.Gln245fs
  • NC_000002.11:g.215645864_215645865insATCCA
  • NR_104212.2:n.698_699insTGGAT
  • NR_104215.2:n.641_642insTGGAT
Protein change:
Q226fs
Molecular consequence:
  • NM_000465.4:c.733_734insTGGAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282543.2:c.676_677insTGGAT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282545.2:c.215+15920_215+15921insTGGAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+28271_158+28272insTGGAT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+11156_364+11157insTGGAT - intron variant - [Sequence Ontology: SO:0001627]
  • NR_104212.2:n.698_699insTGGAT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.641_642insTGGAT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004043692Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(May 19, 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., SCV004043692.2

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Sep 8, 2024