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NM_000260.4(MYO7A):c.133-3C>A

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 28, 2021)
Last evaluated:
Jul 8, 2021
Accession:
VCV001027563.2
Variation ID:
1027563
Description:
single nucleotide variant
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NM_000260.4(MYO7A):c.133-3C>A

Allele ID
1015328
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.5
Genomic location
11: 77147795 (GRCh38) GRCh38 UCSC
11: 76858841 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.77147795C>A
NC_000011.9:g.76858841C>A
NM_000260.4:c.133-3C>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:77147794:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Childhood onset hearing loss
Uncertain significance 1 criteria provided, single submitter Jul 8, 2021 RCV001328028.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYO7A - - GRCh38
GRCh37
2153 2163

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 08, 2021)
criteria provided, single submitter
Method: research
Childhood onset hearing loss
(Autosomal recessive inheritance)
Allele origin: germline
National Institute on Deafness and Communication Disorders,National Institutes of Health
Accession: SCV001519361.2
Submitted: (Jul 28, 2021)
Comment:
was found associated with NM_000260.4:c.6355C>A and NM_000260.4:c.5522C>T
Evidence details
Comment:
PM2, PM3_moderate , PP3 / Modifications from PMID: 30311386 for classification: The genetic causes of hearing loss have not yet been well characterized in the … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jul 31, 2021