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NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter) AND Usher syndrome type 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 29, 2019
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:
RCV001263804.4

Allele description [Variation Report for NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter)]

NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter)

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.1974C>A (p.Tyr658Ter)
HGVS:
  • NC_000011.10:g.77174794C>A
  • NG_009086.2:g.51549C>A
  • NM_000260.4:c.1974C>AMANE SELECT
  • NM_001127180.2:c.1974C>A
  • NM_001369365.1:c.1941C>A
  • NP_000251.3:p.Tyr658Ter
  • NP_001120652.1:p.Tyr658Ter
  • NP_001356294.1:p.Tyr647Ter
  • LRG_1420t1:c.1974C>A
  • LRG_1420:g.51549C>A
  • LRG_1420p1:p.Tyr658Ter
  • NC_000011.9:g.76885840C>A
  • NG_009086.1:g.51531C>A
Protein change:
Y647*
Links:
dbSNP: rs1954477050
NCBI 1000 Genomes Browser:
rs1954477050
Molecular consequence:
  • NM_000260.4:c.1974C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127180.2:c.1974C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369365.1:c.1941C>A - nonsense - [Sequence Ontology: SO:0001587]

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441897Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))		Likely pathogenic
(Dec 29, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV001441897.1

#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: Jun 17, 2024