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NM_033515.3(ARHGAP18):c.1906C>T (p.Arg636Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 11, 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:
RCV004350105.1

Allele description [Variation Report for NM_033515.3(ARHGAP18):c.1906C>T (p.Arg636Cys)]

NM_033515.3(ARHGAP18):c.1906C>T (p.Arg636Cys)

Gene:
ARHGAP18:Rho GTPase activating protein 18 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.33
Genomic location:
Preferred name:
NM_033515.3(ARHGAP18):c.1906C>T (p.Arg636Cys)
HGVS:
  • NC_000006.12:g.129578599G>A
  • NM_033515.3:c.1906C>TMANE SELECT
  • NP_277050.2:p.Arg636Cys
  • NC_000006.11:g.129899744G>A
  • NM_033515.2:c.1906C>T
Protein change:
R636C
Molecular consequence:
  • NM_033515.3:c.1906C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004074155Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 11, 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, SCV004074155.2

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

Description

The c.1906C>T (p.R636C) alteration is located in exon 15 (coding exon 15) of the ARHGAP18 gene. This alteration results from a C to T substitution at nucleotide position 1906, causing the arginine (R) at amino acid position 636 to be replaced by a cysteine (C). 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 10, 2024