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NM_002476.2(MYL4):c.405C>T (p.Phe135=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 19, 2020
Accession:
VCV000476203.3
Variation ID:
476203
Description:
single nucleotide variant
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NM_002476.2(MYL4):c.405C>T (p.Phe135=)

Allele ID
468151
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.32
Genomic location
17: 47221773 (GRCh38) GRCh38 UCSC
17: 45299139 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.45299139C>T
NC_000017.11:g.47221773C>T
NG_052847.1:g.17757C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:47221772:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00022
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00016
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00016
Links
ClinGen: CA8622736
dbSNP: rs150593274
Varsome
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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 Dec 14, 2018 RCV000526228.2
Likely benign 1 criteria provided, single submitter Nov 19, 2020 RCV001419745.1
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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
Likely benign
(Dec 14, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000656676.2
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Nov 19, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 18
Allele origin: germline
Invitae
Accession: SCV001622006.1
Submitted: (Jan 07, 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 rs150593274...

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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 Oct 08, 2021