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NM_000465.4(BARD1):c.689A>G (p.Asp230Gly) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 1, 2022
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:
RCV000586301.4

Allele description [Variation Report for NM_000465.4(BARD1):c.689A>G (p.Asp230Gly)]

NM_000465.4(BARD1):c.689A>G (p.Asp230Gly)

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.689A>G (p.Asp230Gly)
HGVS:
  • NC_000002.12:g.214781185T>C
  • NG_012047.3:g.33527A>G
  • NM_000465.4:c.689A>GMANE SELECT
  • NM_001282543.2:c.632A>G
  • NM_001282545.2:c.215+15876A>G
  • NM_001282548.2:c.158+28227A>G
  • NM_001282549.2:c.364+11112A>G
  • NP_000456.2:p.Asp230Gly
  • NP_001269472.1:p.Asp211Gly
  • LRG_297t1:c.689A>G
  • LRG_297:g.33527A>G
  • LRG_297p1:p.Asp230Gly
  • NC_000002.11:g.215645909T>C
  • NG_012047.2:g.33520A>G
  • NM_000465.2:c.689A>G
  • NR_104212.2:n.654A>G
  • NR_104215.2:n.597A>G
Protein change:
D211G
Links:
dbSNP: rs751384676
NCBI 1000 Genomes Browser:
rs751384676
Molecular consequence:
  • NM_001282545.2:c.215+15876A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282548.2:c.158+28227A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282549.2:c.364+11112A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000465.4:c.689A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.2:n.654A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.597A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000696785Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Nov 25, 2016) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV004234616Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 1, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000696785.1

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

Description

Variant summary: The BARD1 c.689A>G (p.Asp230Gly) variant involves the alteration of a non-conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 1/115900 control chromosomes at a frequency of 0.0000086, which does not exceed the estimated maximal expected allele frequency of a pathogenic BARD1 variant (0.0002188). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

From Revvity Omics, Revvity, SCV004234616.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024