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NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter) AND Usher syndrome type 1B

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1998
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:
RCV000012633.19

Allele description [Variation Report for NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)]

NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)
HGVS:
  • NC_000011.10:g.77172834C>A
  • NG_009086.2:g.49589C>A
  • NM_000260.4:c.1884C>AMANE SELECT
  • NM_001127180.2:c.1884C>A
  • NM_001369365.1:c.1851C>A
  • NP_000251.3:p.Cys628Ter
  • NP_001120652.1:p.Cys628Ter
  • NP_001356294.1:p.Cys617Ter
  • LRG_1420t1:c.1884C>A
  • LRG_1420:g.49589C>A
  • LRG_1420p1:p.Cys628Ter
  • NC_000011.9:g.76883880C>A
  • NG_009086.1:g.49571C>A
Protein change:
C617*; CYS628TER
Links:
OMIM: 276903.0012; dbSNP: rs121965083
NCBI 1000 Genomes Browser:
rs121965083
Molecular consequence:
  • NM_000260.4:c.1884C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127180.2:c.1884C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369365.1:c.1851C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Usher syndrome type 1B (USH1B)
Synonyms:
Usher syndrome type IB
Identifiers:
MONDO: MONDO:0700087; MedGen: C2931206

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032868OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1998) 		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

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.

Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, García-Sandoval B, Ayuso C, Nájera C, Beneyto M.

Mol Cell Probes. 1998 Dec;12(6):417-20.

PubMed [citation]
PMID:
9843659

Details of each submission

From OMIM, SCV000032868.3

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

Description

In 3 affected members of a Spanish family with Usher syndrome type IB (USH1B; 276900), Cuevas et al. (1998) identified a homozygous C-to-A transversion in exon 16 of the MYO7A gene, resulting in a cys628-to-ter (C682X) substitution. The mutation segregated with the phenotype in the family.

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

Last Updated: Sep 29, 2024