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NM_000465.4(BARD1):c.510A>C (p.Lys170Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 26, 2024
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:
RCV002336020.3

Allele description [Variation Report for NM_000465.4(BARD1):c.510A>C (p.Lys170Asn)]

NM_000465.4(BARD1):c.510A>C (p.Lys170Asn)

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.510A>C (p.Lys170Asn)
HGVS:
  • NC_000002.12:g.214781364T>G
  • NG_012047.3:g.33348A>C
  • NM_000465.4:c.510A>CMANE SELECT
  • NM_001282543.2:c.453A>C
  • NM_001282545.2:c.215+15697A>C
  • NM_001282548.2:c.158+28048A>C
  • NM_001282549.2:c.364+10933A>C
  • NP_000456.2:p.Lys170Asn
  • NP_001269472.1:p.Lys151Asn
  • LRG_297t1:c.510A>C
  • LRG_297:g.33348A>C
  • LRG_297p1:p.Lys170Asn
  • NC_000002.11:g.215646088T>G
  • NM_000465.2:c.510A>C
  • NR_104212.2:n.475A>C
  • NR_104215.2:n.418A>C
Protein change:
K151N
Molecular consequence:
  • NM_001282545.2:c.215+15697A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+28048A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+10933A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000465.4:c.510A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.453A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.2:n.475A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.418A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002642537Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 26, 2024) 		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, SCV002642537.3

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024