U.S. flag

An official website of the United States government

NM_000465.4(BARD1):c.57G>T (p.Glu19Asp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2018
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:
RCV000486017.2

Allele description [Variation Report for NM_000465.4(BARD1):c.57G>T (p.Glu19Asp)]

NM_000465.4(BARD1):c.57G>T (p.Glu19Asp)

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.57G>T (p.Glu19Asp)
HGVS:
  • NC_000002.12:g.214809513C>A
  • NG_012047.3:g.5199G>T
  • NM_000465.4:c.57G>TMANE SELECT
  • NM_001282543.2:c.57G>T
  • NM_001282545.2:c.57G>T
  • NM_001282548.2:c.57G>T
  • NM_001282549.2:c.57G>T
  • NP_000456.2:p.Glu19Asp
  • NP_001269472.1:p.Glu19Asp
  • NP_001269474.1:p.Glu19Asp
  • NP_001269477.1:p.Glu19Asp
  • NP_001269478.1:p.Glu19Asp
  • LRG_297t1:c.57G>T
  • LRG_297:g.5199G>T
  • LRG_297p1:p.Glu19Asp
  • NC_000002.11:g.215674237C>A
  • NG_012047.2:g.5192G>T
  • NM_000465.2:c.57G>T
  • NM_000465.3:c.57G>T
  • NR_104212.2:n.171G>T
  • NR_104215.2:n.171G>T
  • NR_104216.2:n.171G>T
Protein change:
E19D
Links:
dbSNP: rs730881406
NCBI 1000 Genomes Browser:
rs730881406
Molecular consequence:
  • NM_000465.4:c.57G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282543.2:c.57G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282545.2:c.57G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282548.2:c.57G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282549.2:c.57G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104212.2:n.171G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104215.2:n.171G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104216.2:n.171G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000567441GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 27, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000567441.4

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

Description

This variant is denoted BARD1 c.57G>T at the cDNA level, p.Glu19Asp (E19D) at the protein level, and results in the change of a Glutamic Acid to an Aspartic Acid (GAG>GAT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BARD1 Glu19Asp was not observed in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BARD1 Glu19Asp is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Aug 11, 2024