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NM_001352514.2(HLCS):c.1002C>T (p.Ala334=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000203761.5
Variation ID:
203761
Description:
single nucleotide variant
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NM_001352514.2(HLCS):c.1002C>T (p.Ala334=)

Allele ID
200377
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.13
Genomic location
21: 36936884 (GRCh38) GRCh38 UCSC
21: 38309184 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.9:g.36936884G>A
NC_000021.8:g.38309184G>A
NM_001352514.2:c.1002C>T MANE Select NP_001339443.1:p.Ala334= synonymous
... more HGVS
Protein change
-
Other names
p.A187A:GCC>GCT
Canonical SPDI
NC_000021.9:36936883:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00300 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00369
The Genome Aggregation Database (gnomAD), exomes 0.00090
Exome Aggregation Consortium (ExAC) 0.00120
Trans-Omics for Precision Medicine (TOPMed) 0.00362
The Genome Aggregation Database (gnomAD) 0.00293
1000 Genomes Project 0.00300
Links
ClinGen: CA312607
dbSNP: rs116114362
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV000634879.5
Benign 1 criteria provided, single submitter Oct 17, 2014 RCV000185952.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HLCS - - GRCh38
GRCh37
504 570

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 17, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000238909.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Holocarboxylase synthetase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001302182.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Holocarboxylase synthetase deficiency
Allele origin: germline
Invitae
Accession: SCV000756237.4
Submitted: (Jan 07, 2021)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs116114362...

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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 Jun 14, 2021