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NM_000260.4(MYO7A):c.93C>T (p.Cys31=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000043344.8
Variation ID:
43344
Description:
single nucleotide variant
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NM_000260.4(MYO7A):c.93C>T (p.Cys31=)

Allele ID
52514
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.5
Genomic location
11: 77142783 (GRCh38) GRCh38 UCSC
11: 76853829 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.77142783C>T
NC_000011.9:g.76853829C>T
NG_009086.1:g.19520C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:77142782:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.01657 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01665
1000 Genomes Project 0.01657
Links
dbSNP: rs35689081
ClinGen: CA132456
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Sep 30, 2019 RCV000036252.6
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000331379.2
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000273950.2
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000357024.2
Benign 1 criteria provided, single submitter Dec 8, 2020 RCV000960115.3
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001275884.1
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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
(Dec 09, 2009)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000059904.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Cys31Cys in Exon 3 of MYO7A: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, … (more)
Benign
(Sep 30, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476556.1
Submitted: (Dec 30, 2020)
Evidence details
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001107063.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000730250.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal dominant 11
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000374158.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000374156.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000303315.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000374157.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1B
Allele origin: germline
Natera, Inc.
Accession: SCV001461534.1
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 rs35689081...

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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 06, 2021