NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter) AND Usher syndrome type 1

Clinical significance:Likely pathogenic (Last evaluated: Mar 26, 2020)

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:
RCV001264303.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter)]

NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter)

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.2472C>A (p.Cys824Ter)
HGVS:
  • NC_000011.10:g.77179839C>A
  • NG_009086.1:g.56576C>A
  • NG_009086.2:g.56594C>A
  • NM_000260.4:c.2472C>AMANE SELECT
  • NM_001127180.2:c.2472C>A
  • NM_001369365.1:c.2439C>A
  • NP_000251.3:p.Cys824Ter
  • NP_001120652.1:p.Cys824Ter
  • NP_001356294.1:p.Cys813Ter
  • LRG_1420t1:c.2472C>A
  • LRG_1420:g.56594C>A
  • LRG_1420p1:p.Cys824Ter
  • NC_000011.9:g.76890885C>A
Protein change:
C813*
Molecular consequence:
  • NM_000260.4:c.2472C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127180.2:c.2472C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369365.1:c.2439C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Usher syndrome type 1 (USH1)
Synonyms:
Usher syndrome, type I, French variety; Retinitis pigmentosa and congenital deafness
Identifiers:
MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001442407Myriad Women's Health, Inc.no assertion criteria provided
Likely pathogenic
(Mar 26, 2020)
unknownclinical testing

Citation Link

Description

NM_000260.3(MYO7A):c.2472C>A(C824*) is expected to be pathogenic in the context of MYO7A-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MYO7A, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

SCV001442407

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Women's Health, Inc., SCV001442407.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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