NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) AND Usher syndrome type 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 10, 2016
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:: RCV000410053.4

Allele description [Variation Report for NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)]

NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)

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.2323C>T (p.Gln775Ter)

HGVS:

NC_000011.10:g.77179085C>T
NG_009086.2:g.55840C>T
NM_000260.4:c.2323C>TMANE SELECT
NM_001127180.2:c.2323C>T
NM_001369365.1:c.2290C>T
NP_000251.3:p.Gln775Ter
NP_001120652.1:p.Gln775Ter
NP_001356294.1:p.Gln764Ter
LRG_1420t1:c.2323C>T
LRG_1420:g.55840C>T
LRG_1420p1:p.Gln775Ter
NC_000011.9:g.76890131C>T
NG_009086.1:g.55822C>T
NM_000260.3:c.2323C>T
p.Gln775X

Protein change:

Q764*

Links:

dbSNP: rs201892914

NCBI 1000 Genomes Browser:

rs201892914

Molecular consequence:

NM_000260.4:c.2323C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127180.2:c.2323C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001369365.1:c.2290C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Usher syndrome type 1 (USH1)
Synonyms:: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS; Usher syndrome, type I, French variety
Identifiers:: MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000487484	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Nov 10, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000487484

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Nov 10, 2016)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Development of a genotyping microarray for Usher syndrome.

Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, et al.

J Med Genet. 2007 Feb;44(2):153-60. Epub 2006 Sep 8.

PubMed [citation]

PMID:: 16963483
PMCID:: PMC2598068

Details of each submission

From Counsyl, SCV000487484.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 25, 2025

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