NM_000465.4(BARD1):c.1844A>G (p.Gln615Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 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:: RCV000566349.5

Allele description [Variation Report for NM_000465.4(BARD1):c.1844A>G (p.Gln615Arg)]

NM_000465.4(BARD1):c.1844A>G (p.Gln615Arg)

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.1844A>G (p.Gln615Arg)

HGVS:

NC_000002.12:g.214745126T>C
NG_012047.3:g.69586A>G
NM_000465.4:c.1844A>GMANE SELECT
NM_001282543.2:c.1787A>G
NM_001282545.2:c.491A>G
NM_001282548.2:c.434A>G
NM_001282549.2:c.365-14618A>G
NP_000456.2:p.Gln615Arg
NP_001269472.1:p.Gln596Arg
NP_001269474.1:p.Gln164Arg
NP_001269477.1:p.Gln145Arg
LRG_297t1:c.1844A>G
LRG_297:g.69586A>G
LRG_297p1:p.Gln615Arg
NC_000002.11:g.215609850T>C
NG_012047.2:g.69579A>G
NM_000465.2:c.1844A>G
NM_000465.3:c.1844A>G
NR_104212.2:n.1809A>G
NR_104215.2:n.1752A>G
NR_104216.2:n.1008A>G

Protein change:

Q145R

Links:

dbSNP: rs764418221

NCBI 1000 Genomes Browser:

rs764418221

Molecular consequence:

NM_001282549.2:c.365-14618A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.1844A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.1787A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.491A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.434A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.1809A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.1752A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.1008A>G - 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

Recent activity

Clear Turn Off Turn On

Erucaria hispanica voucher HUH 2055-72 clone 7 phytochrome A (phyA) gene, partia...
Erucaria hispanica voucher HUH 2055-72 clone 7 phytochrome A (phyA) gene, partial cds
gi|345424407|gb|JN584847.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000665719	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 12, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000665719

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 12, 2023)

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, SCV000665719.6

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

Description

The p.Q615R variant (also known as c.1844A>G), located in coding exon 9 of the BARD1 gene, results from an A to G substitution at nucleotide position 1844. The glutamine at codon 615 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well 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 this alteration 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: Sep 29, 2024

ClinVar

Relating variation to medicine