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NM_000260.4(MYO7A):c.2084C>G (p.Ala695Gly) AND Usher syndrome type 1B

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 11, 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:
RCV001836460.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.2084C>G (p.Ala695Gly)]

NM_000260.4(MYO7A):c.2084C>G (p.Ala695Gly)

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.2084C>G (p.Ala695Gly)
HGVS:
  • NC_000011.10:g.77174904C>G
  • NG_009086.2:g.51659C>G
  • NM_000260.4:c.2084C>GMANE SELECT
  • NM_001127180.2:c.2084C>G
  • NM_001369365.1:c.2051C>G
  • NP_000251.3:p.Ala695Gly
  • NP_001120652.1:p.Ala695Gly
  • NP_001356294.1:p.Ala684Gly
  • LRG_1420t1:c.2084C>G
  • LRG_1420:g.51659C>G
  • LRG_1420p1:p.Ala695Gly
  • NC_000011.9:g.76885950C>G
  • NM_000260.3:c.2084C>G
Protein change:
A684G
Links:
dbSNP: rs1555079121
NCBI 1000 Genomes Browser:
rs1555079121
Molecular consequence:
  • NM_000260.4:c.2084C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.2084C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.2051C>G - 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
SCV002086603Natera, Inc.
no assertion criteria provided
Uncertain significance
(Aug 11, 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., SCV002086603.1

#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: Dec 24, 2023