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NM_198271.4(LMOD3):c.1645T>C (p.Tyr549His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Jan 8, 2018
Accession:
VCV000542081.1
Variation ID:
542081
Description:
single nucleotide variant
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NM_198271.4(LMOD3):c.1645T>C (p.Tyr549His)

Allele ID
519863
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p14.1
Genomic location
3: 69118710 (GRCh38) GRCh38 UCSC
3: 69167861 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.69167861A>G
NC_000003.12:g.69118710A>G
NM_001304418.2:c.1645T>C NP_001291347.1:p.Tyr549His missense
... more HGVS
Protein change
Y549H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00074
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00055
The Genome Aggregation Database (gnomAD), exomes 0.00050
Exome Aggregation Consortium (ExAC) 0.00058
The Genome Aggregation Database (gnomAD) 0.00026
Links
ClinGen: CA2488711
dbSNP: rs200045981
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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 Jan 8, 2018 RCV000652459.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LMOD3 - - GRCh38
GRCh37
112 123

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 08, 2018)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 10
Allele origin: germline
Invitae
Accession: SCV000774329.2
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces tyrosine with histidine at codon 549 of the LMOD3 protein (p.Tyr549His). The tyrosine residue is highly conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Dec 17, 2019