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NM_000465.4(BARD1):c.443G>A (p.Ser148Asn) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 5, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001800797.4

Allele description [Variation Report for NM_000465.4(BARD1):c.443G>A (p.Ser148Asn)]

NM_000465.4(BARD1):c.443G>A (p.Ser148Asn)

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.443G>A (p.Ser148Asn)
HGVS:
  • NC_000002.12:g.214781431C>T
  • NG_012047.3:g.33281G>A
  • NM_000465.4:c.443G>AMANE SELECT
  • NM_001282543.2:c.386G>A
  • NM_001282545.2:c.215+15630G>A
  • NM_001282548.2:c.158+27981G>A
  • NM_001282549.2:c.364+10866G>A
  • NP_000456.2:p.Ser148Asn
  • NP_001269472.1:p.Ser129Asn
  • LRG_297t1:c.443G>A
  • LRG_297:g.33281G>A
  • LRG_297p1:p.Ser148Asn
  • NC_000002.11:g.215646155C>T
  • NG_012047.2:g.33274G>A
  • NM_000465.2:c.443G>A
  • NM_000465.3:c.443G>A
  • NR_104212.2:n.408G>A
  • NR_104215.2:n.351G>A
Protein change:
S129N
Links:
dbSNP: rs1220764138
NCBI 1000 Genomes Browser:
rs1220764138
Molecular consequence:
  • NM_001282545.2:c.215+15630G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+27981G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+10866G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000465.4:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.2:n.408G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.351G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002047173Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Sep 5, 2023) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV003845597GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 22, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H, Wang Y, Ji Q, Cai H, Liang X, Xie J, Li H, Wang J, Zhu G, Tian E, Zhu L, Yuan M, Chen R, Zhao M.

Oncol Lett. 2021 Apr;21(4):329. doi: 10.3892/ol.2021.12590. Epub 2021 Feb 25.

PubMed [citation]
PMID:
33692861
PMCID:
PMC7933761

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002047173.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant has not been reported as a germline variant in the published literature. In a large-scale breast cancer association study, this variant was observed in a control individual and not in any breast cancer cases (see LOVD (http://databases.lovd.nl/shared/genes/BARD1) and PMID: 33471991 (2021)). The frequency of this variant in the general population, 0.00014 (5/34502 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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

From GeneDx, SCV003845597.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 33692861, Wang2022[abstract])

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

Last Updated: Sep 29, 2024