NM_000260.4(MYO7A):c.2283-1G>T AND Rare genetic deafness

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 20, 2012
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:: RCV000844717.4

Allele description [Variation Report for NM_000260.4(MYO7A):c.2283-1G>T]

NM_000260.4(MYO7A):c.2283-1G>T

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.2283-1G>T

HGVS:

NC_000011.10:g.77179044G>T
NG_009086.2:g.55799G>T
NM_000260.4:c.2283-1G>TMANE SELECT
NM_001127180.2:c.2283-1G>T
NM_001369365.1:c.2250-1G>T
NP_000251.3:p.Ser762CysfsTer61
LRG_1420t1:c.2283-1G>T
LRG_1420:g.55799G>T
NC_000011.9:g.76890090G>T
NM_000260.3:c.2283-1G>T
c.2283-1G>T

Links:

dbSNP: rs397516295

NCBI 1000 Genomes Browser:

rs397516295

Molecular consequence:

NM_000260.4:c.2283-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001127180.2:c.2283-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001369365.1:c.2250-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

Condition(s)

Name:: Rare genetic deafness
Identifiers:: MedGen: C5680250; Orphanet: 96210

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000059734	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Pathogenic (Mar 20, 2012)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 21569298, 20497194, 16679490, 21436283, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000059734

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Pathogenic
(Mar 20, 2012)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	4	2	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

Functional analysis of splicing mutations in MYO7A and USH2A genes.

Jaijo T, Aller E, Aparisi MJ, García-García G, Hernan I, Gamundi MJ, Nájera C, Carballo M, Millán JM.

Clin Genet. 2011 Mar;79(3):282-8. doi: 10.1111/j.1399-0004.2010.01454.x.

PubMed [citation]

PMID:: 20497194

See all PubMed Citations (5)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059734.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (5)

Description

The c.2283-1G>T variant in MYO7A has been reported in 8 probands with Usher synd rome (Roux 2011, Bonnet 2011, Jaijo 2011, Roux 2006). 6/8 of these probands were homozygous and 2/8 compound heterozygous. The variant segregated with the disea se in one family and it was absent from 200 control chromosomes (Jaijo 2011). Th e variant alters the invariant region of the 3' splice sequence which leads to s kipping of exon 20, as shown by the analysis of the RNA (Jaijo 2011). In summar y, this variant meets our criteria to be classified as pathogenic for autosomal recessive Usher syndrome.

#	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		4	not provided	2	not provided

Last Updated: Nov 10, 2024

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