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NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1
First in ClinVar:
Apr 10, 2013
Most recent Submission:
Apr 10, 2013
Last evaluated:
Sep 1, 2001
Accession:
VCV000006163.1
Variation ID:
6163
Description:
single nucleotide variant
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NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn)

Allele ID
21202
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218662620 (GRCh38) GRCh38 UCSC
2: 219527343 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.830G>A MANE Select NP_001073335.1:p.Ser277Asn missense
NM_001257342.2:c.830G>A NP_001244271.1:p.Ser277Asn missense
NM_001257343.2:c.830G>A NP_001244272.1:p.Ser277Asn missense
... more HGVS
Protein change
S277N, S157N, S110N
Other names
-
Canonical SPDI
NC_000002.12:218662619:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA117984
UniProtKB: Q9Y276#VAR_018162
OMIM: 603647.0001
dbSNP: rs121908571
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 Sep 1, 2001 RCV000006538.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Sep 01, 2001)
no assertion criteria provided
Method: literature only
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000026721.2
First in ClinVar: Apr 04, 2013
Last updated: Apr 10, 2013
Publications:
PubMed (1)
PubMed: 11528392
Comment on evidence:
In 2 affected sibs and 1 fetus in a consanguineous family with mitochondrial complex III deficiency nuclear type 1 (MC3DN1; 124000) characterized by neonatal tubulopathy, … (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
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. de Lonlay P Nature genetics 2001 PMID: 11528392

Text-mined citations for rs121908571...

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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