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NM_021226.4(ARHGAP22):c.952C>T (p.Arg318Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 21, 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:
RCV004291523.1

Allele description [Variation Report for NM_021226.4(ARHGAP22):c.952C>T (p.Arg318Trp)]

NM_021226.4(ARHGAP22):c.952C>T (p.Arg318Trp)

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.952C>T (p.Arg318Trp)
HGVS:
  • NC_000010.11:g.48453340G>A
  • NG_053158.1:g.207926C>T
  • NM_001256024.2:c.1000C>T
  • NM_001256025.3:c.970C>T
  • NM_001256026.2:c.682C>T
  • NM_001347735.2:c.823C>T
  • NM_001347738.2:c.970C>T
  • NM_021226.4:c.952C>TMANE SELECT
  • NP_001242953.1:p.Arg334Trp
  • NP_001242954.1:p.Arg324Trp
  • NP_001242955.1:p.Arg228Trp
  • NP_001334664.1:p.Arg275Trp
  • NP_001334667.1:p.Arg324Trp
  • NP_067049.2:p.Arg318Trp
  • NC_000010.10:g.49661383G>A
  • NM_021226.2:c.952C>T
  • NR_045675.2:n.1786C>T
  • NR_144642.2:n.1177C>T
  • NR_144643.2:n.1229C>T
  • NR_144644.2:n.1100C>T
  • NR_144645.2:n.1177C>T
  • NR_144646.2:n.1021C>T
Protein change:
R228W
Molecular consequence:
  • NM_001256024.2:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256025.3:c.970C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256026.2:c.682C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347735.2:c.823C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347738.2:c.970C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021226.4:c.952C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045675.2:n.1786C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_144642.2:n.1177C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_144643.2:n.1229C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_144644.2:n.1100C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_144645.2:n.1177C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_144646.2:n.1021C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003946693Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 21, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003946693.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.952C>T (p.R318W) alteration is located in exon 8 (coding exon 8) of the ARHGAP22 gene. This alteration results from a C to T substitution at nucleotide position 952, causing the arginine (R) at amino acid position 318 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024