NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) AND Usher syndrome, type 1B

Clinical significance:Pathogenic (Last evaluated: Sep 16, 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:
RCV001275899.1

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:
Usher syndrome, type 1B (USH1B)
Synonyms:
USHER SYNDROME, TYPE IB
Identifiers:
MONDO: MONDO:0700087; MedGen: C2931206

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001461550Natera, Inc.no assertion criteria providedPathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001461550.1

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

Last Updated: Oct 2, 2021

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