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NM_000257.4(MYH7):c.4353+10G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 10, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000043010.8
Variation ID:
43010
Description:
single nucleotide variant
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NM_000257.4(MYH7):c.4353+10G>A

Allele ID
52180
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q11.2
Genomic location
14: 23417493 (GRCh38) GRCh38 UCSC
14: 23886702 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.23886702C>T
NC_000014.9:g.23417493C>T
NG_007884.1:g.23169G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:23417492:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (T)

Allele frequency
1000 Genomes Project 0.00220
The Genome Aggregation Database (gnomAD), exomes 0.00062
Exome Aggregation Consortium (ExAC) 0.00080
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00261
Trans-Omics for Precision Medicine (TOPMed) 0.00280
The Genome Aggregation Database (gnomAD) 0.00283
Links
ClinGen: CA014842
dbSNP: rs202205780
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 Jan 23, 2015 RCV000035904.8
Likely benign 3 criteria provided, single submitter Jan 26, 2018 RCV000712358.6
Benign 1 criteria provided, single submitter Dec 2, 2020 RCV001086618.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYH7 No evidence available No evidence available GRCh38
GRCh37
2378 2878
MHRT - - GRCh38 - 468

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 23, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000229297.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Mar 02, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000059555.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
4353+10G>A in intron 31 of MYH7: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (27/3738) of … (more)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000303235.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Jan 26, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842832.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (1)
Benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV000252662.8
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001739795.3
Submitted: (Sep 02, 2021)
Evidence details
Benign
(Mar 03, 2015)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001848902.1
Submitted: (Sep 10, 2021)
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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Title Author Journal Year Link
Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans. Ntusi NA Cardiovascular journal of Africa 2016 PMID: 27841901
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MYH7 - - - -

Text-mined citations for rs202205780...

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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 Sep 12, 2021