NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) AND Usher syndrome type 1B

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 21, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000012635.28

Allele description [Variation Report for NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)]

NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)

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.1996C>T (p.Arg666Ter)

HGVS:

NC_000011.10:g.77174816C>T
NG_009086.2:g.51571C>T
NM_000260.4:c.1996C>TMANE SELECT
NM_001127180.2:c.1996C>T
NM_001369365.1:c.1963C>T
NP_000251.3:p.Arg666Ter
NP_001120652.1:p.Arg666Ter
NP_001356294.1:p.Arg655Ter
LRG_1420t1:c.1996C>T
LRG_1420:g.51571C>T
LRG_1420p1:p.Arg666Ter
NC_000011.9:g.76885862C>T
NG_009086.1:g.51553C>T
NM_000260.3:c.1996C>T
p.Arg666X

Protein change:

R655*; ARG666TER

Links:

OMIM: 276903.0016; dbSNP: rs121965085

NCBI 1000 Genomes Browser:

rs121965085

Molecular consequence:

NM_000260.4:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127180.2:c.1996C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001369365.1:c.1963C>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032870	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2005)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002086596	Natera, Inc.	no assertion criteria provided	Pathogenic (Jul 21, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032870

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2005)

germline

literature only

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

SCV002086596

Natera, Inc.

no assertion criteria provided

Pathogenic
(Jul 21, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Citations

PubMed

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ.

Hum Genet. 2005 Mar;116(4):292-9. Epub 2005 Jan 20.

PubMed [citation]

PMID:: 15660226

Details of each submission

From OMIM, SCV000032870.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Through a systematic mutation screening of the genes known to cause type I Usher syndrome in patients from the U.S. and U.K., Ouyang et al. (2005) identified a 1996C-T transition in exon 17 of the MYO7A gene, resulting in an arg666-to-ter nonsense mutation (R666X). The mutation was predicted to truncate myosin VIIA by approximately 90%. Of the 12 mutations detected by Ouyang et al. (2005) at the MYO7A locus in patients with type I Usher syndrome (USH1B; 276900), 5 of 21 alleles (23.8%) were R666X. A G-C transversion within the splice acceptor site of intron 27 (276903.0017) accounted for 3 of 21 alleles (14.3%).

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

From Natera, Inc., SCV002086596.1

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

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

Last Updated: Oct 20, 2024

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