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NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) AND Usher syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 20, 2020
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:
RCV001171540.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)]

NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)

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.1997G>A (p.Arg666Gln)
HGVS:
  • NC_000011.10:g.77174817G>A
  • NG_009086.2:g.51572G>A
  • NM_000260.4:c.1997G>AMANE SELECT
  • NM_001127180.2:c.1997G>A
  • NM_001369365.1:c.1964G>A
  • NP_000251.3:p.Arg666Gln
  • NP_001120652.1:p.Arg666Gln
  • NP_001356294.1:p.Arg655Gln
  • LRG_1420t1:c.1997G>A
  • LRG_1420:g.51572G>A
  • LRG_1420p1:p.Arg666Gln
  • NC_000011.9:g.76885863G>A
  • NG_009086.1:g.51554G>A
  • NM_000260.3:c.1997G>A
  • NM_000260.4(MYO7A):c.1997G>AMANE SELECT
  • p.Arg666Gln
Protein change:
R655Q
Links:
dbSNP: rs782396605
NCBI 1000 Genomes Browser:
rs782396605
Molecular consequence:
  • NM_000260.4:c.1997G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.1997G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.1964G>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001334325ClinGen Hearing Loss Variant Curation Expert Panel
reviewed by expert panel

(ClinGen HL ACMG Specifications v1)		Uncertain significance
(May 20, 2020) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Hearing Loss Variant Curation Expert Panel, SCV001334325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.1997G>A (p.Arg666Gln) variant in MYO7A is present in 10/42046 (0.012% CI 95%) of African alleles in gnomAD v3, which is a low enough frequency to award PM2_Supporting based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive Usher syndrome (PM2_Supporting). This variant has been detected in 1 proband with Usher syndrome, however, they carried another VUS with phase unknown (PM3_Supporting not met; ClinVar ID: 196099; PMIDs: 27460420, 31479088). The REVEL computational prediction analysis tool produced a score of 0.841, which is above the threshold necessary to apply PP3. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM2_Supporting, PP3.

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

Last Updated: Apr 6, 2024