NM_000465.4(BARD1):c.473T>A (p.Val158Glu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 11, 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:: RCV000656770.2

Allele description [Variation Report for NM_000465.4(BARD1):c.473T>A (p.Val158Glu)]

NM_000465.4(BARD1):c.473T>A (p.Val158Glu)

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.473T>A (p.Val158Glu)

Other names:

p.V158E:GTG>GAG

HGVS:

NC_000002.12:g.214781401A>T
NG_012047.3:g.33311T>A
NM_000465.4:c.473T>AMANE SELECT
NM_001282543.2:c.416T>A
NM_001282545.2:c.215+15660T>A
NM_001282548.2:c.158+28011T>A
NM_001282549.2:c.364+10896T>A
NP_000456.2:p.Val158Glu
NP_001269472.1:p.Val139Glu
LRG_297t1:c.473T>A
LRG_297:g.33311T>A
LRG_297p1:p.Val158Glu
NC_000002.11:g.215646125A>T
NG_012047.2:g.33304T>A
NM_000465.2:c.473T>A
NM_000465.3:c.473T>A
NR_104212.2:n.438T>A
NR_104215.2:n.381T>A

Protein change:

V139E

Links:

dbSNP: rs730881414

NCBI 1000 Genomes Browser:

rs730881414

Molecular consequence:

NM_001282545.2:c.215+15660T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+28011T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+10896T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.473T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.416T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.438T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.381T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000209836	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Mar 11, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000209836

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Mar 11, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000209836.14

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is denoted BARD1 c.473T>A at the cDNA level, p.Val158Glu (V158E) at the protein level, and results in the change of a Valine to a Glutamic Acid (GTG>GAG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BARD1 Val158Glu was not observed in large population cohorts (Lek 2016). Since Valine and Glutamic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BARD1 Val158Glu is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BARD1 Val158Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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