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NM_000465.4(BARD1):c.730dup (p.Ser244fs) 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:
RCV003334559.2

Allele description [Variation Report for NM_000465.4(BARD1):c.730dup (p.Ser244fs)]

NM_000465.4(BARD1):c.730dup (p.Ser244fs)

Gene:
BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_000465.4(BARD1):c.730dup (p.Ser244fs)
HGVS:
  • NC_000002.12:g.214781144dup
  • NG_012047.3:g.33568dup
  • NM_000465.4:c.730dupMANE SELECT
  • NM_001282543.2:c.673dup
  • NM_001282545.2:c.215+15917dup
  • NM_001282548.2:c.158+28268dup
  • NM_001282549.2:c.364+11153dup
  • NP_000456.2:p.Ser244fs
  • NP_001269472.1:p.Ser225fs
  • LRG_297t1:c.730dup
  • LRG_297:g.33568dup
  • LRG_297p1:p.Ser244fs
  • NC_000002.11:g.215645868dup
  • NR_104212.2:n.695dup
  • NR_104215.2:n.638dup
Protein change:
S225fs
Molecular consequence:
  • NM_000465.4:c.730dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282543.2:c.673dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282545.2:c.215+15917dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+28268dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+11153dup - intron variant - [Sequence Ontology: SO:0001627]
  • NR_104212.2:n.695dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.638dup - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004042998Myriad 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., SCV004042998.2

#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