NM_000465.4(BARD1):c.734A>G (p.Gln245Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 8, 2016
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:: RCV000478933.1

Allele description [Variation Report for NM_000465.4(BARD1):c.734A>G (p.Gln245Arg)]

NM_000465.4(BARD1):c.734A>G (p.Gln245Arg)

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.734A>G (p.Gln245Arg)

HGVS:

NC_000002.12:g.214781140T>C
NG_012047.2:g.33565A>G
NG_012047.3:g.33572A>G
NM_000465.4:c.734A>GMANE SELECT
NM_001282543.2:c.677A>G
NM_001282545.2:c.215+15921A>G
NM_001282548.2:c.158+28272A>G
NM_001282549.2:c.364+11157A>G
NP_000456.2:p.Gln245Arg
NP_001269472.1:p.Gln226Arg
LRG_297t1:c.734A>G
LRG_297:g.33572A>G
LRG_297p1:p.Gln245Arg
NC_000002.11:g.215645864T>C
NM_000465.2:c.734A>G
NR_104212.2:n.699A>G
NR_104215.2:n.642A>G

Protein change:

Q226R

Links:

dbSNP: rs1064795276

NCBI 1000 Genomes Browser:

rs1064795276

Molecular consequence:

NM_001282545.2:c.215+15921A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282548.2:c.158+28272A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282549.2:c.364+11157A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.677A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.699A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.642A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000570934	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jul 8, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000570934

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jul 8, 2016)

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, SCV000570934.4

#	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.734A>G at the cDNA level, p.Gln245Arg (Q245R) at the protein level, and results in the change of a Glutamine to an Arginine (CAA>CGA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BARD1 Gln245Arg was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Glutamine and Arginine differ in some properties, this is considered a semi-conservative amino acid substitution. BARD1 Gln245Arg occurs at a position that is not conserved and is not located in a known functional domain (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BARD1 Gln245Arg 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: Apr 23, 2022

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