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NM_000260.4(MYO7A):c.593-5C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 17, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000043307.8
Variation ID:
43307
Description:
single nucleotide variant
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NM_000260.4(MYO7A):c.593-5C>T

Allele ID
52477
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.5
Genomic location
11: 77156857 (GRCh38) GRCh38 UCSC
11: 76867903 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1420:g.33612C>T
LRG_1420t1:c.593-5C>T
NC_000011.10:g.77156857C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:77156856:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.06869 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.06043
The Genome Aggregation Database (gnomAD) 0.06264
Trans-Omics for Precision Medicine (TOPMed) 0.06493
1000 Genomes Project 0.06869
The Genome Aggregation Database (gnomAD), exomes 0.01460
Exome Aggregation Consortium (ExAC) 0.01777
Trans-Omics for Precision Medicine (TOPMed) 0.06246
The Genome Aggregation Database (gnomAD) 0.05923
Links
ClinGen: CA132409
dbSNP: rs762666
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV000992405.4
Benign 1 criteria provided, single submitter Jul 20, 2009 RCV000036212.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000305167.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000354554.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000396780.2
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001275894.1
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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
2206 2216

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000374215.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal dominant 11
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000374213.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000374214.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jul 20, 2009)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000059864.6
Submitted: (Mar 21, 2019)
Evidence details
Benign
(Nov 12, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144670.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001717467.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001887657.1
Submitted: (Sep 17, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1B
Allele origin: germline
Natera, Inc.
Accession: SCV001461544.1
Submitted: (Dec 28, 2020)
Evidence details

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.

Text-mined citations for rs762666...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021