NM_003567.4(BCAR3):c.2354G>A (p.Arg785Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 19, 2022
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:: RCV004176045.1

Allele description [Variation Report for NM_003567.4(BCAR3):c.2354G>A (p.Arg785Gln)]

NM_003567.4(BCAR3):c.2354G>A (p.Arg785Gln)

Gene:

BCAR3:BCAR3 adaptor protein, NSP family member [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

Preferred name:

NM_003567.4(BCAR3):c.2354G>A (p.Arg785Gln)

HGVS:

NC_000001.11:g.93562365C>T
NM_001261408.2:c.2354G>A
NM_001261409.1:c.2354G>A
NM_001261410.2:c.2081G>A
NM_001308251.1:c.1382G>A
NM_001412043.1:c.2354G>A
NM_001412044.1:c.2354G>A
NM_001412045.1:c.2354G>A
NM_001412046.1:c.2354G>A
NM_001412048.1:c.2354G>A
NM_001412049.1:c.2354G>A
NM_001412050.1:c.2354G>A
NM_001412051.1:c.2354G>A
NM_001412052.1:c.2354G>A
NM_001412054.1:c.2423G>A
NM_001412055.1:c.2429G>A
NM_001412056.1:c.2483G>A
NM_001412057.1:c.2225G>A
NM_001412058.1:c.1694G>A
NM_001412059.1:c.2033G>A
NM_001412060.1:c.1976G>A
NM_001412061.1:c.1976G>A
NM_001412062.1:c.1976G>A
NM_001412073.1:c.2390G>A
NM_001412074.1:c.1952G>A
NM_001412076.1:c.2018G>A
NM_001412077.1:c.1694G>A
NM_003567.4:c.2354G>AMANE SELECT
NP_001248337.1:p.Arg785Gln
NP_001248338.1:p.Arg785Gln
NP_001248339.1:p.Arg694Gln
NP_001295180.1:p.Arg461Gln
NP_001398972.1:p.Arg785Gln
NP_001398973.1:p.Arg785Gln
NP_001398974.1:p.Arg785Gln
NP_001398975.1:p.Arg785Gln
NP_001398977.1:p.Arg785Gln
NP_001398978.1:p.Arg785Gln
NP_001398979.1:p.Arg785Gln
NP_001398980.1:p.Arg785Gln
NP_001398981.1:p.Arg785Gln
NP_001398983.1:p.Arg808Gln
NP_001398984.1:p.Arg810Gln
NP_001398985.1:p.Arg828Gln
NP_001398986.1:p.Arg742Gln
NP_001398987.1:p.Arg565Gln
NP_001398988.1:p.Arg678Gln
NP_001398989.1:p.Arg659Gln
NP_001398990.1:p.Arg659Gln
NP_001398991.1:p.Arg659Gln
NP_001399002.1:p.Arg797Gln
NP_001399003.1:p.Arg651Gln
NP_001399005.1:p.Arg673Gln
NP_001399006.1:p.Arg565Gln
NP_003558.1:p.Arg785Gln
NC_000001.10:g.94027922C>T
NM_003567.2:c.2354G>A
NR_178023.1:n.2853G>A
NR_178024.1:n.2489G>A

Protein change:

R461Q

Molecular consequence:

NM_001261408.2:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001261409.1:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001261410.2:c.2081G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001308251.1:c.1382G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412043.1:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412044.1:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412045.1:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412046.1:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412048.1:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412049.1:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412050.1:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412051.1:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412052.1:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412054.1:c.2423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412055.1:c.2429G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412056.1:c.2483G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412057.1:c.2225G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412058.1:c.1694G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412059.1:c.2033G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412060.1:c.1976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412061.1:c.1976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412062.1:c.1976G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412073.1:c.2390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412074.1:c.1952G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412076.1:c.2018G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001412077.1:c.1694G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003567.4:c.2354G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Lygus hesperus doublesex isoform splice variant 12 (dsx) mRNA, complete cds, alternatively spliced
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003672938	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 19, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003672938

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 19, 2022)

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, SCV003672938.2

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

Description

The c.2354G>A (p.R785Q) alteration is located in exon 12 (coding exon 11) of the BCAR3 gene. This alteration results from a G to A substitution at nucleotide position 2354, causing the arginine (R) at amino acid position 785 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, 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: Oct 26, 2024

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