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NM_000260.4(MYO7A):c.1344-2A>G AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 12, 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:
RCV000036047.7

Allele description [Variation Report for NM_000260.4(MYO7A):c.1344-2A>G]

NM_000260.4(MYO7A):c.1344-2A>G

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.1344-2A>G
HGVS:
  • NC_000011.10:g.77162118A>G
  • NG_009086.2:g.38873A>G
  • NM_000260.4:c.1344-2A>GMANE SELECT
  • NM_001127180.2:c.1344-2A>G
  • NM_001369365.1:c.1311-2A>G
  • LRG_1420t1:c.1344-2A>G
  • LRG_1420:g.38873A>G
  • NC_000011.9:g.76873164A>G
  • NM_000260.3:c.1344-2A>G
  • c.1344-2A>G
Links:
dbSNP: rs111033415
NCBI 1000 Genomes Browser:
rs111033415
Molecular consequence:
  • NM_000260.4:c.1344-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001127180.2:c.1344-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369365.1:c.1311-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
5

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000059699Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Sep 12, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided95not providednot providednot providedclinical testing

Citations

PubMed

Novel mutations in MYO7A and USH2A in Usher syndrome.

Maubaret C, Griffoin JM, Arnaud B, Hamel C.

Ophthalmic Genet. 2005 Mar;26(1):25-9.

PubMed [citation]
PMID:
15823922

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059699.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided9not providednot providedclinical testing PubMed (2)

Description

The c.1344-2A>G variant in MYO7A has been reported in four individuals with Ushe r syndrome (Maubaret 2005, LMM data). One of them was homozygous for the variant and three other individuals were compound heterozygous with a second pathogenic MYO7A variant. This variant has not been identified in large population studies . In addition, this variant occurs in the invariant region (+/- 1/2) of the spli ce consensus sequence and is predicted to cause altered splicing leading to an a bnormal or absent protein. In summary, this variant meets criteria to be classif ied as pathogenic for Usher syndrome in an autosomal recessive manner.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided9not provided5not provided

Last Updated: Sep 29, 2024