NM_173477.5(USH1G):c.113G>A (p.Trp38Ter) AND Usher syndrome, type 1G

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2005)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000003052.4

Allele description [Variation Report for NM_173477.5(USH1G):c.113G>A (p.Trp38Ter)]

NM_173477.5(USH1G):c.113G>A (p.Trp38Ter)

Genes:
USH1G:USH1 protein network component sans [Gene - OMIM - HGNC]
OTOP2:otopetrin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter)
HGVS:
  • NC_000017.11:g.74922961C>T
  • NG_007882.2:g.5303G>A
  • NG_033062.1:g.3687C>T
  • NG_033062.2:g.3687C>T
  • NM_001282489.3:c.-144G>A
  • NM_173477.5:c.113G>AMANE SELECT
  • NP_775748.2:p.Trp38Ter
  • LRG_1416t1:c.113G>A
  • LRG_1416:g.5303G>A
  • LRG_1416p1:p.Trp38Ter
  • NC_000017.10:g.72919056C>T
Protein change:
W38*; TRP38TER
Links:
OMIM: 607696.0005; dbSNP: rs104894652
NCBI 1000 Genomes Browser:
rs104894652
Molecular consequence:
  • NM_001282489.3:c.-144G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_173477.5:c.113G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Usher syndrome, type 1G (USH1G)
Synonyms:
USHER SYNDROME, TYPE IG, MILD
Identifiers:
MONDO: MONDO:0011748; MedGen: C1847089; Orphanet: 231169; Orphanet: 886; OMIM: 606943

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023210OMIMno assertion criteria providedPathogenic
(Mar 1, 2005)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ.

Hum Genet. 2005 Mar;116(4):292-9. Epub 2005 Jan 20.

PubMed [citation]
PMID:
15660226

Details of each submission

From OMIM, SCV000023210.3

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

Description

In a mutation screen of patients with Usher syndrome type I from the U.S. and the U.K., Ouyang et al. (2005) found homozygosity for a 113G-A transition in the USH1G gene, resulting in a trp38-to-ter (W38X) substitution in the first ankyrin domain of the SANS protein (see USH1G; 606943). The mutation would result in a truncated protein lacking approximately 90% of the predicted coding sequence. Ouyang et al. (2005) found the mutation in 2 (3.4%) of 59 probands from the U.S.

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

Last Updated: Mar 12, 2021

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