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NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys) AND Intellectual disability, autosomal recessive 43

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 7, 2022
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:
RCV001836613.3

Allele description [Variation Report for NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys)]

NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys)

Gene:
WASHC4:WASH complex subunit 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.3
Genomic location:
Preferred name:
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys)
HGVS:
  • NC_000012.12:g.105160129A>G
  • NG_034157.1:g.57416A>G
  • NM_001293640.2:c.3044A>G
  • NM_015275.3:c.3041A>GMANE SELECT
  • NP_001280569.1:p.Tyr1015Cys
  • NP_056090.1:p.Tyr1014Cys
  • NC_000012.11:g.105553907A>G
  • NM_015275.1:c.3041A>G
Protein change:
Y1014C; TYR1014CYS
Links:
OMIM: 615748.0002; dbSNP: rs768574664
NCBI 1000 Genomes Browser:
rs768574664
Molecular consequence:
  • NM_001293640.2:c.3044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015275.3:c.3041A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, autosomal recessive 43 (MRT43)
Identifiers:
MONDO: MONDO:0014354; MedGen: C4014386; Orphanet: 88616; OMIM: 615817

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002074120OMIM
no assertion criteria provided
Pathogenic
(Jul 7, 2022) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.

Gangfuß A, Czech A, Hentschel A, Münchberg U, Horvath R, Töpf A, O'Heir E, Lochmüller H, Stehling F, Kiewert C, Sickmann A, Kuechler A, Kaiser FJ, Kölbel H, Christiansen J, Schara-Schmidt U, Roos A.

J Pathol. 2022 Jan;256(1):93-107. doi: 10.1002/path.5812. Epub 2021 Nov 18.

PubMed [citation]
PMID:
34599609

Details of each submission

From OMIM, SCV002074120.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 sisters, born to consanguineous Emirati parents, with autosomal recessive intellectual developmental disorder-43 (MRT43; 615817), Gangfuss et al. (2022) identified a homozygous c.3041A-G transition in the WASHC4 gene, resulting in a tyr1014-to-cys (Y1014C) substitution. The mutation was identified by whole-exome sequencing. The molecular status of the parents was not reported. The sisters also carried a mutation in the POSTN gene (608777), which was not thought to be pathogenic.

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

Last Updated: Oct 8, 2024