NM_001374828.1(ARID1B):c.2459G>A (p.Arg820Gln) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 4, 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:: RCV003708799.1

Allele description

NM_001374828.1(ARID1B):c.2459G>A (p.Arg820Gln)

Gene:

ARID1B:AT-rich interaction domain 1B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

Preferred name:

NM_001374828.1(ARID1B):c.2459G>A (p.Arg820Gln)

HGVS:

NC_000006.12:g.157084873G>A
NG_066624.1:g.313848G>A
NM_001346813.1:c.2210G>A
NM_001363725.2:c.-41G>A
NM_001371656.1:c.2498G>A
NM_001374820.1:c.2498G>A
NM_001374828.1:c.2459G>AMANE SELECT
NM_017519.3:c.2459G>A
NM_020732.3:c.2249G>A
NM_175863.2:c.2036G>A
NP_001333742.1:p.Arg737Gln
NP_001358585.1:p.Arg833Gln
NP_001361749.1:p.Arg833Gln
NP_001361757.1:p.Arg820Gln
NP_059989.3:p.Arg820Gln
NP_065783.3:p.Arg750Gln
NP_787059.2:p.Arg679Gln
NC_000006.11:g.157406007G>A

Protein change:

R679Q

Molecular consequence:

NM_001363725.2:c.-41G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001346813.1:c.2210G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371656.1:c.2498G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374820.1:c.2498G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374828.1:c.2459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_017519.3:c.2459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020732.3:c.2249G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_175863.2:c.2036G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

RESEARCH QUESTIONS - Shockwave Therapy for Pain Associated with Upper Extremity ...
RESEARCH QUESTIONS - Shockwave Therapy for Pain Associated with Upper Extremity Orthopedic Disorders: A Review of the Clinical and Cost-Effectiveness

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
SCV004477991	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 4, 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

SCV004477991

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 4, 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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV004477991.1

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

Description

This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 750 of the ARID1B protein (p.Arg750Gln). This variant is present in population databases (rs764402992, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ARID1B-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ARID1B protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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 16, 2024

ClinVar

Relating variation to medicine