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NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) AND Usher syndrome type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 24, 2023
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:
RCV003326124.4

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

Condition(s)

Name:
Usher syndrome type 1 (USH1)
Synonyms:
RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS
Identifiers:
MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004032259Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 24, 2023) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV004032259.3

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

Description

Criteria applied: PVS1,PM2_SUP,PM3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 14, 2025