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NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 22, 2014
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:
RCV000156543.6

Allele description [Variation Report for NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs)]

NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs)
Other names:
NM_000260.3:c.6231dupG; p.Lys2078GlufsX50
HGVS:
  • NC_000011.10:g.77211331dup
  • NG_009086.2:g.88086dup
  • NM_000260.4:c.6231dupMANE SELECT
  • NM_001127180.2:c.6117dup
  • NM_001369365.1:c.6084dup
  • NP_000251.3:p.Lys2078fs
  • NP_001120652.1:p.Lys2040fs
  • NP_001356294.1:p.Lys2029fs
  • LRG_1420t1:c.6231dup
  • LRG_1420:g.88086dup
  • LRG_1420p1:p.Lys2078fs
  • NC_000011.9:g.76922374_76922375insG
  • NC_000011.9:g.76922376dup
  • NG_009086.1:g.88067dup
  • NM_000260.3:c.6231_6232insG
  • NM_000260.3:c.6231dup
Protein change:
K2029fs
Links:
dbSNP: rs730880367
NCBI 1000 Genomes Browser:
rs730880367
Observations:
2

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
SCV000206262Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Jul 22, 2014) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided82not 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, SCV000206262.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testing PubMed (1)

Description

The p.Lys2078fs variant in MYO7A has been previously reported in one individual with hearing loss. It has not been identified in large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino aci d sequence beginning at position 2078 and lead to a premature termination codon 50 amino acids downstream. This alteration is then predicted to lead to a trunca ted or absent protein. Truncating or loss of function variants in the MYO7A gen e are an established disease mechanism for Usher syndrome. In summary, this var iant meets our criteria to be classified as pathogenic for Usher syndrome in an autosomal recessive manner (http://personalizedmedicine.partners.org/Laboratory- For-Molecular-Medicine/).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided8not provided2not provided

Last Updated: Sep 14, 2025