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NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1
First in ClinVar:
Jan 20, 2017
Most recent Submission:
Jan 20, 2017
Last evaluated:
Feb 1, 2009
Accession:
VCV000006173.1
Variation ID:
6173
Description:
single nucleotide variant
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NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala)

Allele ID
21212
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218661135 (GRCh38) GRCh38 UCSC
2: 219525858 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.148A>G MANE Select NP_001073335.1:p.Thr50Ala missense
NM_001257342.2:c.148A>G NP_001244271.1:p.Thr50Ala missense
NM_001257343.2:c.148A>G NP_001244272.1:p.Thr50Ala missense
... more HGVS
Protein change
T50A
Other names
-
Canonical SPDI
NC_000002.12:218661134:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 603647.0011
dbSNP: rs121908580
ClinGen: CA118036
UniProtKB: Q9Y276#VAR_064615
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Feb 1, 2009 RCV000006549.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BCS1L - - GRCh38
GRCh37
294 323

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Feb 01, 2009)
no assertion criteria provided
Method: literature only
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000026732.4
First in ClinVar: Apr 04, 2013
Last updated: Jan 20, 2017
Publications:
PubMed (1)
PubMed: 19162478
Comment on evidence:
In a 4-year-old Spanish boy with isolated mitochondrial complex III deficiency (MC3DN1; 124000), Blazquez et al. (2009) identified a homozygous 148A-G transition in exon 1 … (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
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. Blázquez A Neuromuscular disorders : NMD 2009 PMID: 19162478

Text-mined citations for rs121908580...

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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 Apr 25, 2022