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NM_000260.3(MYO7A):c.1556delG AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 8, 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:
RCV000036056.14

Allele description [Variation Report for NM_000260.3(MYO7A):c.1556delG]

NM_000260.3(MYO7A):c.1556delG

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.3(MYO7A):c.1556delG
Other names:
p.Gly519fs
HGVS:
  • NC_000011.10:g.77162854del
  • NG_009086.2:g.39609del
  • LRG_1420:g.39609del
  • NC_000011.9:g.76873900del
  • NC_000011.9:g.76873900delG
  • NM_000260.3:c.1556delG
  • c.1556delG
Links:
dbSNP: rs606231379
NCBI 1000 Genomes Browser:
rs606231379
Observations:
1

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
SCV000059708Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Apr 8, 2010) 		germlineclinical testing

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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided31not 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, SCV000059708.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

The Gly519fs variant has not been reported in the literature nor previously iden tified by our laboratory. However, this variant is predicted to cause a frameshi ft, which alters the protein's amino acid sequence beginning at codon 519 and le ads to a premature stop codon 10 codons downstream. This alteration is then pred icted to lead to a truncated or absent protein. In summary, this variant is high ly likely to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided1not provided

Last Updated: Apr 20, 2024