NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) AND Usher syndrome type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 18, 2021
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:: RCV001526753.2

Allele description [Variation Report for NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)]

NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)

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.2122A>G (p.Met708Val)

HGVS:

NC_000011.10:g.77175399A>G
NG_009086.2:g.52154A>G
NM_000260.4:c.2122A>GMANE SELECT
NM_001127180.2:c.2122A>G
NM_001369365.1:c.2089A>G
NP_000251.3:p.Met708Val
NP_001120652.1:p.Met708Val
NP_001356294.1:p.Met697Val
LRG_1420t1:c.2122A>G
LRG_1420:g.52154A>G
LRG_1420p1:p.Met708Val
NC_000011.9:g.76886445A>G
NG_009086.1:g.52136A>G
NM_000260.3:c.2122A>G
c.2122A>G

Protein change:

M697V

Links:

dbSNP: rs397516293

NCBI 1000 Genomes Browser:

rs397516293

Molecular consequence:

NM_000260.4:c.2122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127180.2:c.2122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369365.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001737268	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 18, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001737268

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 18, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Genome-Nilou Lab, SCV001737268.1

#	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	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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