Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Nov 23, 2016)
Last evaluated:
Jul 22, 2016
Accession:
VCV000001907.1
Variation ID:
1907
Description:
single nucleotide variant
Help

NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)

Allele ID
16946
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.13
Genomic location
21: 36936735 (GRCh38) GRCh38 UCSC
21: 38309035 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.38309035A>G
NC_000021.9:g.36936735A>G
NM_001352514.2:c.1151T>C MANE Select NP_001339443.1:p.Leu384Pro missense
... more HGVS
Protein change
L237P, L384P
Other names
-
Canonical SPDI
NC_000021.9:36936734:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA278018
UniProtKB: P50747#VAR_005084
OMIM: 609018.0002
dbSNP: rs119103227
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Jul 22, 2016 RCV000001984.6
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HLCS - - GRCh38
GRCh37
474 540

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 22, 2016)
criteria provided, single submitter
Method: clinical testing
Holocarboxylase synthetase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000485745.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (4)
Pathogenic
(Oct 01, 1994)
no assertion criteria provided
Method: literature only
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000022142.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency. Mayende L Journal of molecular medicine (Berlin, Germany) 2012 PMID: 21894551
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. Yang X Human genetics 2001 PMID: 11735028
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. Aoki Y Biochimica et biophysica acta 1995 PMID: 8541348
Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. Suzuki Y Nature genetics 1994 PMID: 7842009

Text-mined citations for rs119103227...

Help
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 08, 2021