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NM_000260.4(MYO7A):c.2094+1G>A AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 23, 2010
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:
RCV000036075.5

Allele description [Variation Report for NM_000260.4(MYO7A):c.2094+1G>A]

NM_000260.4(MYO7A):c.2094+1G>A

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.2094+1G>A
HGVS:
  • NC_000011.10:g.77174915G>A
  • NG_009086.2:g.51670G>A
  • NM_000260.4:c.2094+1G>AMANE SELECT
  • NM_001127180.2:c.2094+1G>A
  • NM_001369365.1:c.2061+1G>A
  • LRG_1420t1:c.2094+1G>A
  • LRG_1420:g.51670G>A
  • NC_000011.9:g.76885961G>A
  • NM_000260.3:c.2094+1G>A
  • c.2094+1G>A
Links:
dbSNP: rs111033404
NCBI 1000 Genomes Browser:
rs111033404
Molecular consequence:
  • NM_000260.4:c.2094+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001127180.2:c.2094+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369365.1:c.2061+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000059727Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Pathogenic
(Dec 23, 2010)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

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, SCV000059727.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The 2094+1G>A variant in MYO7A has not been reported in the literature nor previ ously identified by our laboratory. The 2094+1G>A variant is predicted to cause abnormal splicing because the nucleotide substitution occurs in the invariant re gion of the splice consensus sequence. In summary, this variant meets our criter ia to be classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024