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

Clinical significance:Uncertain significance (Last evaluated: Feb 28, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000672944.1

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:
Deafness, autosomal recessive 2 (DFNB2)
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
Identifiers:
MONDO: MONDO:0010807; MedGen: C1838701; Orphanet: 90636; OMIM: 600060
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
SCV000798101Counsylcriteria provided, single submitter
Uncertain significance
(Feb 28, 2018)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, et al.

Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27.

PubMed [citation]
PMID:
27460420
PMCID:
PMC5117943

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D, Tekin D, Bademci G, Foster J 2nd, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, Kabahuma RI, Kameswaran M, Lasisi TJ, Adedeji WA, Lasisi AO, Menendez I, Herrera M, Carranza C, Maroofian R, Crosby AH, Bensaid M, Masmoudi S, et al.

Hum Genet. 2016 Aug;135(8):953-61. doi: 10.1007/s00439-016-1697-z. Epub 2016 Jun 25.

PubMed [citation]
PMID:
27344577
PMCID:
PMC5497215

Details of each submission

From Counsyl, SCV000798101.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center