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NM_002476.2(MYL4):c.150C>T (p.Ala50=)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000476198.4
Variation ID:
476198
Description:
single nucleotide variant
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NM_002476.2(MYL4):c.150C>T (p.Ala50=)

Allele ID
467853
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.32
Genomic location
17: 47213813 (GRCh38) GRCh38 UCSC
17: 45291179 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.45291179C>T
NC_000017.11:g.47213813C>T
NG_052847.1:g.9797C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:47213812:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00103
The Genome Aggregation Database (gnomAD) 0.00057
1000 Genomes Project 0.00200
Exome Aggregation Consortium (ExAC) 0.00028
The Genome Aggregation Database (gnomAD), exomes 0.00031
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00138
Links
ClinGen: CA8622618
dbSNP: rs143234546
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 7, 2020 RCV000537236.4
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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 07, 2020)
criteria provided, single submitter
Method: clinical testing
Atrial fibrillation, familial, 18
Allele origin: germline
Invitae
Accession: SCV000656671.4
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 rs143234546...

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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 24, 2021