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NM_002476.2(MYL4):c.314-4G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 22, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000476202.5
Variation ID:
476202
Description:
single nucleotide variant
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NM_002476.2(MYL4):c.314-4G>A

Allele ID
468337
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.32
Genomic location
17: 47221678 (GRCh38) GRCh38 UCSC
17: 45299044 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.45299044G>A
NC_000017.11:g.47221678G>A
NG_052847.1:g.17662G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:47221677:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.02256 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00409
Exome Aggregation Consortium (ExAC) 0.00521
The Genome Aggregation Database (gnomAD) 0.01475
1000 Genomes Project 0.02256
Trans-Omics for Precision Medicine (TOPMed) 0.01711
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01791
Links
dbSNP: rs114024716
ClinGen: CA8622715
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000550673.5
Benign 1 criteria provided, single submitter Oct 16, 2018 RCV001692203.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYL4 - - GRCh38
GRCh37
84 93

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 18
Allele origin: germline
Invitae
Accession: SCV000656675.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Oct 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001912039.1
Submitted: (Sep 22, 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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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 rs114024716...

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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 24, 2021