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NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 22, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000036253.6

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_009086.2: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
  • NG_009086.1:g.35163T>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]
Observations:
4

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000059905Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Jan 22, 2018) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided64not providednot providednot providedclinical testing

Citations

PubMed

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ.

Am J Hum Genet. 1996 Nov;59(5):1074-83.

PubMed [citation]
PMID:
8900236
PMCID:
PMC1914835

USH1A: chronicle of a slow death.

Gerber S, Bonneau D, Gilbert B, Munnich A, Dufier JL, Rozet JM, Kaplan J.

Am J Hum Genet. 2006 Feb;78(2):357-9. No abstract available.

PubMed [citation]
PMID:
16400615
PMCID:
PMC1380243
See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059905.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testing PubMed (5)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided6not provided4not provided

Last Updated: Sep 29, 2024