NM_001199417.2(ARHGAP23):c.4028C>T (p.Pro1343Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 22, 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:: RCV004348676.1

Allele description [Variation Report for NM_001199417.2(ARHGAP23):c.4028C>T (p.Pro1343Leu)]

NM_001199417.2(ARHGAP23):c.4028C>T (p.Pro1343Leu)

Gene:

ARHGAP23:Rho GTPase activating protein 23 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_001199417.2(ARHGAP23):c.4028C>T (p.Pro1343Leu)

HGVS:

NC_000017.11:g.38510524C>T
NM_001199417.2:c.4028C>TMANE SELECT
NP_001186346.1:p.Pro1343Leu
NC_000017.10:g.36666760C>T
NM_001199417.1:c.4028C>T

Protein change:

P1343L

Molecular consequence:

NM_001199417.2:c.4028C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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CETP cholesteryl ester transfer protein [Homo sapiens]
CETP cholesteryl ester transfer protein [Homo sapiens]
Gene ID:1071

Gene
Gene Links for Nucleotide (Select 1676325249) (1)
Gene
Homo sapiens folylpolyglutamate synthase (FPGS), RefSeqGene on chromosome 9; nuc...
Homo sapiens folylpolyglutamate synthase (FPGS), RefSeqGene on chromosome 9; nuclear gene for mitochondrial product
gi|300116173|ref|NG_023245.1|

Nucleotide
Homologene neighbors for GEO Profiles (Select 53782417) (0)
GEO Profiles
PREDICTED: Homo sapiens caprin family member 2 (CAPRIN2), transcript variant X12...
PREDICTED: Homo sapiens caprin family member 2 (CAPRIN2), transcript variant X12, mRNA
gi|2462533970|ref|XM_054373024.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004075161	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 22, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004075161

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 22, 2023)

germline

clinical testing

Citation Link

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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, SCV004075161.2

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

Description

The c.4028C>T (p.P1343L) alteration is located in exon 24 (coding exon 24) of the ARHGAP23 gene. This alteration results from a C to T substitution at nucleotide position 4028, causing the proline (P) at amino acid position 1343 to be replaced by a leucine (L). 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: May 19, 2024

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