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NM_000260.4(MYO7A):c.905G>A (p.Arg302His) AND Usher syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 22, 2018
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000758141.3

Allele description [Variation Report for NM_000260.4(MYO7A):c.905G>A (p.Arg302His)]

NM_000260.4(MYO7A):c.905G>A (p.Arg302His)

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.905G>A (p.Arg302His)
Other names:
NM_000260.3(MYO7A):c.905G>A
HGVS:
  • NC_000011.10:g.77158332G>A
  • NG_009086.2:g.35087G>A
  • NM_000260.4:c.905G>AMANE SELECT
  • NM_001127180.2:c.905G>A
  • NM_001369365.1:c.872G>A
  • NP_000251.3:p.Arg302His
  • NP_001120652.1:p.Arg302His
  • NP_001356294.1:p.Arg291His
  • LRG_1420t1:c.905G>A
  • LRG_1420:g.35087G>A
  • LRG_1420p1:p.Arg302His
  • NC_000011.9:g.76869378G>A
  • NG_009086.1:g.35069G>A
  • NM_000260.3:c.905G>A
  • Q13402:p.Arg302His
  • c.905G>A
Protein change:
R291H; ARG302HIS
Links:
UniProtKB: Q13402#VAR_009324; OMIM: 276903.0006; dbSNP: rs41298135
NCBI 1000 Genomes Browser:
rs41298135
Molecular consequence:
  • NM_000260.4:c.905G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.905G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.872G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome
Synonyms:
Usher Syndromes; Usher's syndrome
Identifiers:
MONDO: MONDO:0019501; MeSH: D052245; MedGen: C0271097; Orphanet: 886; OMIM: PS276900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000886633ClinGen Hearing Loss Variant Curation Expert Panel
reviewed by expert panel

(ClinGen HL ACMG Specifications v1)		Likely benign
(Oct 22, 2018) 		germlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

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

Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function.

Watanabe S, Umeki N, Ikebe R, Ikebe M.

Biochemistry. 2008 Sep 9;47(36):9505-13. doi: 10.1021/bi8007142. Epub 2008 Aug 13.

PubMed [citation]
PMID:
18700726
PMCID:
PMC2821024

Details of each submission

From ClinGen Hearing Loss Variant Curation Expert Panel, SCV000886633.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

The filtering allele frequency of the c.905G>A (p.Arg302His) variant in the MYO7A gene is 0.4% for European chromosomes by gnomAD (587/126276 with 95% CI), which is a high enough frequency to be classified as likely benign based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BS1). While this variant has been reported in several individuals with Usher syndrome, in 2 individuals it was identified in cis with another pathogenic MYO7A variant (BP2; PMID 8900236). This variant has also been reported in at least 2 additional individuals with Usher syndrome who had alternate genetic etiologies identified (PMID: 25468891). In addition, in vitro functional evidence from one study suggests that the Arg302His variant had little effect on motor activity of MYO7A (BS3_Supporting PMID: 18700726). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel : BS1, BP2, BS3_Supporting.

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

Last Updated: Oct 20, 2024