NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 2018
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:: RCV000672944.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)]

NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)

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.1997G>A (p.Arg666Gln)

HGVS:

NC_000011.10:g.77174817G>A
NG_009086.2:g.51572G>A
NM_000260.4:c.1997G>AMANE SELECT
NM_001127180.2:c.1997G>A
NM_001369365.1:c.1964G>A
NP_000251.3:p.Arg666Gln
NP_001120652.1:p.Arg666Gln
NP_001356294.1:p.Arg655Gln
LRG_1420t1:c.1997G>A
LRG_1420:g.51572G>A
LRG_1420p1:p.Arg666Gln
NC_000011.9:g.76885863G>A
NG_009086.1:g.51554G>A
NM_000260.3:c.1997G>A
NM_000260.4(MYO7A):c.1997G>AMANE SELECT
p.Arg666Gln

Protein change:

R655Q

Links:

dbSNP: rs782396605

NCBI 1000 Genomes Browser:

rs782396605

Molecular consequence:

NM_000260.4:c.1997G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127180.2:c.1997G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369365.1:c.1964G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000798101	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Feb 28, 2018)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27460420, 27344577 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000798101

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Feb 28, 2018)

unknown

clinical testing

PubMed (2)
[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

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, et al.

Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27.

PubMed [citation]

PMID:: 27460420
PMCID:: PMC5117943

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D, Tekin D, Bademci G, Foster J 2nd, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, Kabahuma RI, Kameswaran M, Lasisi TJ, Adedeji WA, Lasisi AO, Menendez I, Herrera M, Carranza C, Maroofian R, Crosby AH, Bensaid M, Masmoudi S, et al.

Hum Genet. 2016 Aug;135(8):953-61. doi: 10.1007/s00439-016-1697-z. Epub 2016 Jun 25.

PubMed [citation]

PMID:: 27344577
PMCID:: PMC5497215

Details of each submission

From Counsyl, SCV000798101.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Apr 6, 2024

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