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NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 19, 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:
RCV000675070.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)]

NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
HGVS:
  • NC_000011.10:g.77162177_77162179dup
  • NG_009086.2:g.38932_38934dup
  • NM_000260.4:c.1401_1403dupMANE SELECT
  • NM_001127180.2:c.1401_1403dup
  • NM_001369365.1:c.1368_1370dup
  • NP_000251.3:p.Arg467_His468insGln
  • NP_001120652.1:p.Arg467_His468insGln
  • NP_001356294.1:p.Arg456_His457insGln
  • LRG_1420t1:c.1401_1403dup
  • LRG_1420:g.38932_38934dup
  • LRG_1420p1:p.Arg467_His468insGln
  • NC_000011.9:g.76873222_76873223insGCA
  • NC_000011.9:g.76873223_76873225dup
  • NM_000260.3:c.1403_1404insGCA
  • NM_000260.3:c.1403_1404insGCA
  • NM_000260.4:c.1401_1403dupGCAMANE SELECT
  • c.1403_1404insGCA
Links:
dbSNP: rs111033219
NCBI 1000 Genomes Browser:
rs111033219
Molecular consequence:
  • NM_000260.4:c.1401_1403dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001127180.2:c.1401_1403dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001369365.1:c.1368_1370dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 2
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2; Deafness, autosomal recessive 2
Identifiers:
MONDO: MONDO:0010807; MedGen: C1838701; Orphanet: 90636; OMIM: 600060
Name:
Usher syndrome type 1 (USH1)
Synonyms:
Usher syndrome, type I, French variety; 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
SCV000800547Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jun 19, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ.

Am J Hum Genet. 1996 Nov;59(5):1074-83.

PubMed [citation]
PMID:
8900236
PMCID:
PMC1914835

Details of each submission

From Counsyl, SCV000800547.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024