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NM_000260.4(MYO7A):c.3375+14C>A

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Aug 5, 2015
Accession:
VCV000227681.1
Variation ID:
227681
Description:
single nucleotide variant
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NM_000260.4(MYO7A):c.3375+14C>A

Allele ID
231368
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.5
Genomic location
11: 77183171 (GRCh38) GRCh38 UCSC
11: 76894216 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.77183171C>A
NC_000011.9:g.76894216C>A
NM_000260.4:c.3375+14C>A
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00010
Exome Aggregation Consortium (ExAC) 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00010
Links
ClinGen: CA6198037
dbSNP: rs782500012
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Aug 5, 2015 RCV000216118.1
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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
973 982

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 05, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000270547.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
c.3375+14C>A in intron 26 of MYO7A: This variant is not expected to have clinica l significance because it is not located within the splice consensus ... (more)

Citations for this variant

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 Oct 27, 2019