NM_001374828.1(ARID1B):c.5141A>C (p.Gln1714Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 30, 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:: RCV003679246.2

Allele description [Variation Report for NM_001374828.1(ARID1B):c.5141A>C (p.Gln1714Pro)]

NM_001374828.1(ARID1B):c.5141A>C (p.Gln1714Pro)

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.5141A>C (p.Gln1714Pro)

HGVS:

NC_000006.12:g.157201366A>C
NG_066624.1:g.430341A>C
NM_001346813.1:c.4892A>C
NM_001363725.2:c.2642A>C
NM_001371656.1:c.5021A>C
NM_001374820.1:c.5021A>C
NM_001374828.1:c.5141A>CMANE SELECT
NM_017519.3:c.4982A>C
NM_020732.3:c.4772A>C
NM_175863.2:c.4559A>C
NP_001333742.1:p.Gln1631Pro
NP_001350654.1:p.Gln881Pro
NP_001358585.1:p.Gln1674Pro
NP_001361749.1:p.Gln1674Pro
NP_001361757.1:p.Gln1714Pro
NP_059989.3:p.Gln1661Pro
NP_065783.3:p.Gln1591Pro
NP_787059.2:p.Gln1520Pro
NC_000006.11:g.157522500A>C

Protein change:

Q1520P

Molecular consequence:

NM_001346813.1:c.4892A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363725.2:c.2642A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371656.1:c.5021A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374820.1:c.5021A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374828.1:c.5141A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_017519.3:c.4982A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020732.3:c.4772A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_175863.2:c.4559A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004400737	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 30, 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

SCV004400737

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 30, 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV004400737.1

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

Description

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. 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. This variant has not been reported in the literature in individuals affected with ARID1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1591 of the ARID1B protein (p.Gln1591Pro).

#	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

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