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NM_004309.6(ARHGDIA):c.358C>T (p.Arg120Ter) AND Nephrotic syndrome, type 8

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 10, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000128809.2

Allele description [Variation Report for NM_004309.6(ARHGDIA):c.358C>T (p.Arg120Ter)]

NM_004309.6(ARHGDIA):c.358C>T (p.Arg120Ter)

Gene:
ARHGDIA:Rho GDP dissociation inhibitor alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_004309.6(ARHGDIA):c.358C>T (p.Arg120Ter)
HGVS:
  • NC_000017.11:g.81869230G>A
  • NG_034210.1:g.7177C>T
  • NM_001185077.3:c.358C>T
  • NM_001185078.3:c.358C>T
  • NM_001301240.2:c.358C>T
  • NM_001301241.2:c.358C>T
  • NM_001301242.2:c.358C>T
  • NM_001301243.2:c.493C>T
  • NM_004309.6:c.358C>TMANE SELECT
  • NP_001172006.1:p.Arg120Ter
  • NP_001172007.1:p.Arg120Ter
  • NP_001288169.1:p.Arg120Ter
  • NP_001288170.1:p.Arg120Ter
  • NP_001288171.1:p.Arg120Ter
  • NP_001288172.1:p.Arg165Ter
  • NP_004300.1:p.Arg120Ter
  • NC_000017.10:g.79827106G>A
  • NR_125441.2:n.348C>T
Protein change:
R120*; ARG120TER
Links:
OMIM: 601925.0003; dbSNP: rs587777553
NCBI 1000 Genomes Browser:
rs587777553
Molecular consequence:
  • NR_125441.2:n.348C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001185077.3:c.358C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001185078.3:c.358C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001301240.2:c.358C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001301241.2:c.358C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001301242.2:c.358C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001301243.2:c.493C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004309.6:c.358C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Nephrotic syndrome, type 8 (NPHS8)
Identifiers:
MONDO: MONDO:0014099; MedGen: C3808953; Orphanet: 656; OMIM: 615244

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172467OMIM
no assertion criteria provided
Pathogenic
(Mar 10, 2015) 		germlineliterature only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From OMIM, SCV000172467.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

In a Moroccan infant (A4578-21), born of consanguineous parents, with congenital nephrotic syndrome (NPHS8; 615277), Gee et al. (2013) identified a homozygous c.358C-T transition in exon 4 of the ARHGDIA gene, resulting in an arg120-to-ter (R120X) substitution. The parents were heterozygous for the mutation, which was not found in 190 ethnically matched control individuals or in more than 8,600 European controls in the Exome Variant Server database.

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

Last Updated: Apr 23, 2022