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NM_020754.4(ARHGAP31):c.2497C>T (p.Leu833Phe) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 3, 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:
RCV002937913.2

Allele description [Variation Report for NM_020754.4(ARHGAP31):c.2497C>T (p.Leu833Phe)]

NM_020754.4(ARHGAP31):c.2497C>T (p.Leu833Phe)

Gene:
ARHGAP31:Rho GTPase activating protein 31 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q13.33
Genomic location:
Preferred name:
NM_020754.4(ARHGAP31):c.2497C>T (p.Leu833Phe)
HGVS:
  • NC_000003.12:g.119414426C>T
  • NG_007665.2:g.125054C>T
  • NM_020754.2:c.2497C>T
  • NM_020754.4:c.2497C>TMANE SELECT
  • NP_065805.2:p.Leu833Phe
  • NC_000003.11:g.119133273C>T
Protein change:
L833F
Links:
dbSNP: rs201970872
NCBI 1000 Genomes Browser:
rs201970872
Molecular consequence:
  • NM_020754.4:c.2497C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003724104Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 3, 2022) 		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, SCV003724104.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024