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NM_002476.2(MYL4):c.135G>A (p.Lys45=)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 14, 2020
Accession:
VCV000962172.2
Variation ID:
962172
Description:
single nucleotide variant
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NM_002476.2(MYL4):c.135G>A (p.Lys45=)

Allele ID
949991
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.32
Genomic location
17: 47209557 (GRCh38) GRCh38 UCSC
17: 45286923 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.45286923G>A
NC_000017.11:g.47209557G>A
NG_052847.1:g.5541G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:47209556:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 14, 2020 RCV001235981.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYL4 - - GRCh38
GRCh37
- 93

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 14, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 18
Allele origin: germline
Invitae
Accession: SCV001408691.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects codon 45 of the MYL4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)

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
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Record last updated Oct 08, 2021