NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) AND Usher syndrome type 1

Clinical significance:Likely pathogenic (Last evaluated: Apr 24, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000988605.3

Allele description [Variation Report for NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)]

NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)

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.1997G>A (p.Arg666Gln)
HGVS:
  • NC_000011.10:g.77174817G>A
  • NG_009086.1:g.51554G>A
  • NG_009086.2:g.51572G>A
  • NM_000260.4:c.1997G>AMANE SELECT
  • NM_001127180.2:c.1997G>A
  • NM_001369365.1:c.1964G>A
  • NP_000251.3:p.Arg666Gln
  • NP_001120652.1:p.Arg666Gln
  • NP_001356294.1:p.Arg655Gln
  • LRG_1420t1:c.1997G>A
  • LRG_1420:g.51572G>A
  • LRG_1420p1:p.Arg666Gln
  • NC_000011.9:g.76885863G>A
  • NM_000260.3:c.1997G>A
  • NM_000260.4(MYO7A):c.1997G>AMANE SELECT
  • p.Arg666Gln
Protein change:
R655Q
Links:
dbSNP: rs782396605
NCBI 1000 Genomes Browser:
rs782396605
Molecular consequence:
  • NM_000260.4:c.1997G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.1997G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.1964G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001138384Mendelicscriteria provided, single submitter
Likely pathogenic
(Apr 24, 2020)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001138384.2

#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: Nov 27, 2021

Support Center