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NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 3, 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:
RCV000664583.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)]

NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)

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.1868G>A (p.Arg623His)
HGVS:
  • NC_000011.10:g.77172818G>A
  • NG_009086.2:g.49573G>A
  • NM_000260.4:c.1868G>AMANE SELECT
  • NM_001127180.2:c.1868G>A
  • NM_001369365.1:c.1835G>A
  • NP_000251.3:p.Arg623His
  • NP_001120652.1:p.Arg623His
  • NP_001356294.1:p.Arg612His
  • LRG_1420t1:c.1868G>A
  • LRG_1420:g.49573G>A
  • LRG_1420p1:p.Arg623His
  • NC_000011.9:g.76883864G>A
  • NG_009086.1:g.49555G>A
  • NM_000260.3:c.1868G>A
  • c.1868G>A
Protein change:
R612H
Links:
dbSNP: rs111033416
NCBI 1000 Genomes Browser:
rs111033416
Molecular consequence:
  • NM_000260.4:c.1868G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.1868G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.1835G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000788571Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely benign
(Oct 3, 2017) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.

Iwasa YI, Nishio SY, Usami SI.

PLoS One. 2016;11(12):e0166781. doi: 10.1371/journal.pone.0166781.

PubMed [citation]
PMID:
27911912
PMCID:
PMC5135052

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM, El-Asrag M, Parry DA, Morgan JE, Logan CV, Carr IM, Sheridan E, Charlton R, Johnson CA, Taylor G, Toomes C, McKibbin M, Inglehearn CF, Ali M.

PLoS One. 2014;9(8):e104281. doi: 10.1371/journal.pone.0104281.

PubMed [citation]
PMID:
25133751
PMCID:
PMC4136783

Details of each submission

From Counsyl, SCV000788571.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024