Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_002476.2(MYL4):c.544A>G (p.Asn182Asp)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 29, 2019
Accession:
VCV000840094.2
Variation ID:
840094
Description:
single nucleotide variant
Help

NM_002476.2(MYL4):c.544A>G (p.Asn182Asp)

Allele ID
845549
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.32
Genomic location
17: 47222436 (GRCh38) GRCh38 UCSC
17: 45299802 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.45299802A>G
NC_000017.11:g.47222436A>G
NG_052847.1:g.18420A>G
... more HGVS
Protein change
N182D
Other names
-
Canonical SPDI
NC_000017.11:47222435:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 29, 2019 RCV001042001.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 29, 2019)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 18
Allele origin: germline
Invitae
Accession: SCV001205658.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces asparagine with aspartic acid at codon 182 of the MYL4 protein (p.Asn182Asp). The asparagine residue is moderately conserved and there is … (more)

Functional evidence

Help
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

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021