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NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3
First in ClinVar:
Jan 20, 2017
Most recent Submission:
May 16, 2022
Last evaluated:
Aug 26, 2021
Accession:
VCV000006164.7
Variation ID:
6164
Description:
single nucleotide variant
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NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)

Allele ID
21203
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 218661283 (GRCh38) GRCh38 UCSC
2: 219526006 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001079866.2:c.296C>T MANE Select NP_001073335.1:p.Pro99Leu missense
NM_001257342.2:c.296C>T NP_001244271.1:p.Pro99Leu missense
NM_001257343.2:c.296C>T NP_001244272.1:p.Pro99Leu missense
... more HGVS
Protein change
P99L
Other names
-
Canonical SPDI
NC_000002.12:218661282:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA117989
UniProtKB: Q9Y276#VAR_018159
OMIM: 603647.0002
dbSNP: rs121908572
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 3, 2017 RCV000665386.1
Pathogenic 1 criteria provided, single submitter Aug 26, 2021 RCV001062637.5
Pathogenic 1 no assertion criteria provided Sep 1, 2001 RCV000006539.5
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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
Likely pathogenic
(Feb 03, 2017)
criteria provided, single submitter
Method: clinical testing
GRACILE syndrome
Affected status: unknown
Allele origin: unknown
Counsyl
Accession: SCV000789501.1
First in ClinVar: Aug 05, 2018
Last updated: Aug 05, 2018
Publications:
PubMed (4)
PubMed: 11528392238920852465511017314340
Pathogenic
(Aug 26, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001227451.3
First in ClinVar: Apr 15, 2020
Last updated: May 16, 2022
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: SCV000026722.4
First in ClinVar: Apr 04, 2013
Last updated: Nov 06, 2020
Publications:
PubMed (1)
PubMed: 11528392
Comment on evidence:
In 2 patients with complex III deficiency nuclear type 1 (MC3DN1; 124000), a boy and a girl, born to unrelated consanguineous families, de Lonlay et … (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
BCS1L gene mutation causing GRACILE syndrome: case report. Kasapkara ÇS Renal failure 2014 PMID: 24655110
Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course. Ezgu F Gene 2013 PMID: 23892085
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. Hinson JT The New England journal of medicine 2007 PMID: 17314340
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 rs121908572...

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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 Aug 24, 2022