NM_000465.4(BARD1):c.62G>C (p.Arg21Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 11, 2015
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:: RCV002357129.2

Allele description [Variation Report for NM_000465.4(BARD1):c.62G>C (p.Arg21Pro)]

NM_000465.4(BARD1):c.62G>C (p.Arg21Pro)

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.62G>C (p.Arg21Pro)

HGVS:

NC_000002.12:g.214809508C>G
NG_012047.3:g.5204G>C
NM_000465.4:c.62G>CMANE SELECT
NM_001282543.2:c.62G>C
NM_001282545.2:c.62G>C
NM_001282548.2:c.62G>C
NM_001282549.2:c.62G>C
NP_000456.2:p.Arg21Pro
NP_001269472.1:p.Arg21Pro
NP_001269474.1:p.Arg21Pro
NP_001269477.1:p.Arg21Pro
NP_001269478.1:p.Arg21Pro
LRG_297t1:c.62G>C
LRG_297:g.5204G>C
LRG_297p1:p.Arg21Pro
NC_000002.11:g.215674232C>G
NG_012047.2:g.5197G>C
NM_000465.2:c.62G>C
NR_104212.2:n.176G>C
NR_104215.2:n.176G>C
NR_104216.2:n.176G>C

Protein change:

R21P

Links:

dbSNP: rs1696468454

NCBI 1000 Genomes Browser:

rs1696468454

Molecular consequence:

NM_000465.4:c.62G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.62G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.62G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.62G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001282549.2:c.62G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.176G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.176G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.176G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002655978	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 11, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002655978

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 11, 2015)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002655978.2

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

Description

The p.R21P variant (also known as c.62G>C), located in coding exon 1 of the BARD1 gene, results from a G to C substitution at nucleotide position 62. The arginine at codon 21 is replaced by proline, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6183 samples (12366 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 65000 alleles tested) in our clinical cohort. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.R21P remains unclear.

#	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: May 1, 2024

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