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NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) AND Usher syndrome type 1B

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 16, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001830456.1

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 type 1B (USH1B)
Synonyms:
Usher syndrome type IB
Identifiers:
MONDO: MONDO:0700087; MedGen: C2931206

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002086597Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jan 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002086597.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024