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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2017
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:: RCV000669149.2

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:: Autosomal recessive nonsyndromic hearing loss 2
Synonyms:: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2; Deafness, autosomal recessive 2
Identifiers:: MONDO: MONDO:0010807; MedGen: C1838701; Orphanet: 90636; OMIM: 600060

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000793867	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Pathogenic (Sep 1, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 21569298, 15660226, 10094549 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000793867

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Pathogenic
(Sep 1, 2017)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, et al.

Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21.

PubMed [citation]

PMID:: 21569298
PMCID:: PMC3125325

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

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000793867.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	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: Oct 20, 2024

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