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NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 15, 2020
Accession:
VCV000813958.3
Variation ID:
813958
Description:
single nucleotide variant
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NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)

Allele ID
802126
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151603685 (GRCh38) GRCh38 UCSC
2: 152460199 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_202:g.135803C>T
LRG_202t1:c.13147C>T
NC_000002.11:g.152460199G>A
... more HGVS
Protein change
Q4383*
Other names
-
Canonical SPDI
NC_000002.12:151603684:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1212374733
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Apr 15, 2020 RCV001004942.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEB - - GRCh38
GRCh37
3747 4669

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 03, 2018)
criteria provided, single submitter
Method: research
Nemaline myopathy 2
(Autosomal recessive inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001164465.1
Submitted: (Oct 03, 2019)
Evidence details
Comment:
The heterozygous p.Gln4383Ter variant in NEB was identified by our study in the compound heterozygous state, with a VUS, in one individual with nemaline myopathy. … (more)
Pathogenic
(Apr 15, 2020)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Invitae
Accession: SCV001225725.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This variant occurs in a region of NEB (Exons 82-105) consisting of three highly homologous 8-exon repeat units (exons 82-89, exons 90-97, exons 98-105). Sequence … (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
Mutation update: the spectra of nebulin variants and associated myopathies. Lehtokari VL Human mutation 2014 PMID: 25205138

Text-mined citations for rs1212374733...

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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 30, 2021