NM_021226.4(ARHGAP22):c.931G>A (p.Val311Ile) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 12, 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:: RCV004138305.1

Allele description [Variation Report for NM_021226.4(ARHGAP22):c.931G>A (p.Val311Ile)]

NM_021226.4(ARHGAP22):c.931G>A (p.Val311Ile)

Gene:

ARHGAP22:Rho GTPase activating protein 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.22

Genomic location:

Preferred name:

NM_021226.4(ARHGAP22):c.931G>A (p.Val311Ile)

HGVS:

NC_000010.11:g.48453361C>T
NG_053158.1:g.207905G>A
NM_001256024.2:c.979G>A
NM_001256025.3:c.949G>A
NM_001256026.2:c.661G>A
NM_001347735.2:c.802G>A
NM_001347738.2:c.949G>A
NM_021226.4:c.931G>AMANE SELECT
NP_001242953.1:p.Val327Ile
NP_001242954.1:p.Val317Ile
NP_001242955.1:p.Val221Ile
NP_001334664.1:p.Val268Ile
NP_001334667.1:p.Val317Ile
NP_067049.2:p.Val311Ile
NC_000010.10:g.49661404C>T
NM_021226.2:c.931G>A
NR_045675.2:n.1765G>A
NR_144642.2:n.1156G>A
NR_144643.2:n.1208G>A
NR_144644.2:n.1079G>A
NR_144645.2:n.1156G>A
NR_144646.2:n.1000G>A

Protein change:

V221I

Molecular consequence:

NM_001256024.2:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001256025.3:c.949G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001256026.2:c.661G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001347735.2:c.802G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001347738.2:c.949G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021226.4:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_045675.2:n.1765G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_144642.2:n.1156G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_144643.2:n.1208G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_144644.2:n.1079G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_144645.2:n.1156G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_144646.2:n.1000G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

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
SCV003612317	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003612317

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 12, 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, SCV003612317.2

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

Description

The c.931G>A (p.V311I) alteration is located in exon 8 (coding exon 8) of the ARHGAP22 gene. This alteration results from a G to A substitution at nucleotide position 931, causing the valine (V) at amino acid position 311 to be replaced by an isoleucine (I). 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: Nov 3, 2024

ClinVar

Relating variation to medicine