NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) AND Deafness, autosomal recessive 2

Clinical significance:Pathogenic (Last evaluated: Oct 19, 2017)

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:
RCV000670120.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)]

NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)

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.999T>G (p.Tyr333Ter)
HGVS:
  • NC_000011.10:g.77158426T>G
  • NG_009086.1:g.35163T>G
  • NG_009086.2:g.35181T>G
  • NM_000260.4:c.999T>GMANE SELECT
  • NM_001127180.2:c.999T>G
  • NM_001369365.1:c.966T>G
  • NP_000251.3:p.Tyr333Ter
  • NP_001120652.1:p.Tyr333Ter
  • NP_001356294.1:p.Tyr322Ter
  • LRG_1420t1:c.999T>G
  • LRG_1420:g.35181T>G
  • LRG_1420p1:p.Tyr333Ter
  • NC_000011.9:g.76869472T>G
  • NM_000260.3:c.999T>G
  • c.999T>G
  • p.Tyr333X
Protein change:
Y322*
Links:
dbSNP: rs111033285
NCBI 1000 Genomes Browser:
rs111033285
Molecular consequence:
  • NM_000260.4:c.999T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127180.2:c.999T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369365.1:c.966T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Deafness, autosomal recessive 2 (DFNB2)
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
Identifiers:
MONDO: MONDO:0010807; MedGen: C1838701; Orphanet: 90636; OMIM: 600060

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000794937Counsylno assertion criteria providedPathogenic
(Oct 19, 2017)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJH.

Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.

PubMed [citation]
PMID:
26969326
PMCID:
PMC4796320

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, SCV000794937.2

#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: Oct 2, 2021

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