NM_000465.4(BARD1):c.2246G>C (p.Arg749Thr) AND BARD1-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 20, 2023
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:: RCV003393827.4

Allele description [Variation Report for NM_000465.4(BARD1):c.2246G>C (p.Arg749Thr)]

NM_000465.4(BARD1):c.2246G>C (p.Arg749Thr)

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.2246G>C (p.Arg749Thr)

HGVS:

NC_000002.12:g.214728764C>G
NG_012047.3:g.85948G>C
NM_000465.4:c.2246G>CMANE SELECT
NM_001282543.2:c.2189G>C
NM_001282545.2:c.893G>C
NM_001282548.2:c.836G>C
NM_001282549.2:c.707G>C
NP_000456.2:p.Arg749Thr
NP_001269472.1:p.Arg730Thr
NP_001269474.1:p.Arg298Thr
NP_001269477.1:p.Arg279Thr
NP_001269478.1:p.Arg236Thr
LRG_297t1:c.2246G>C
LRG_297:g.85948G>C
LRG_297p1:p.Arg749Thr
NC_000002.11:g.215593488C>G
NG_012047.2:g.85941G>C
NM_000465.3:c.2246G>C
NR_104212.2:n.2211G>C
NR_104215.2:n.2154G>C
NR_104216.2:n.1410G>C

Protein change:

R236T

Links:

dbSNP: rs1692200373

NCBI 1000 Genomes Browser:

rs1692200373

Molecular consequence:

NM_000465.4:c.2246G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.2189G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.893G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.836G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282549.2:c.707G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.2211G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.2154G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.1410G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: BARD1-related disorder
Synonyms:: BARD1-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004109976	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 20, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004109976

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 20, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 PreventionGenetics, part of Exact Sciences, SCV004109976.1

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

Description

The BARD1 c.2246G>C variant is predicted to result in the amino acid substitution p.Arg749Thr. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. It is interpreted as uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/853807/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine