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NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 21, 2021)
Last evaluated:
Aug 10, 2021
Accession:
VCV000379985.3
Variation ID:
379985
Description:
single nucleotide variant
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NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)

Allele ID
366807
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q32.2
Genomic location
2: 190319749 (GRCh38) GRCh38 UCSC
2: 191184475 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.191184475A>G
NC_000002.12:g.190319749A>G
NG_017062.1:g.5297T>C
... more HGVS
Protein change
M1T
Other names
-
Canonical SPDI
NC_000002.12:190319748:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.43171 (G)

Allele frequency
1000 Genomes Project 0.43171
The Genome Aggregation Database (gnomAD) 0.53251
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.55190
Trans-Omics for Precision Medicine (TOPMed) 0.49871
The Genome Aggregation Database (gnomAD), exomes 0.51203
Exome Aggregation Consortium (ExAC) 0.52787
Links
ClinGen: CA2027842
dbSNP: rs291466
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Aug 10, 2021 RCV001509616.2
Benign 1 criteria provided, single submitter Dec 2, 2015 RCV000440239.1
Benign 1 no assertion criteria provided Feb 16, 2016 RCV000676752.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HIBCH - - GRCh38
GRCh37
99 124

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 02, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000517593.4
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)
Benign
(Nov 20, 2020)
criteria provided, single submitter
Method: clinical testing
Beta-hydroxyisobutyryl-CoA deacylase deficiency
Allele origin: germline
Invitae
Accession: SCV001716437.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Aug 10, 2021)
criteria provided, single submitter
Method: clinical testing
Beta-hydroxyisobutyryl-CoA deacylase deficiency
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001934144.1
Submitted: (Sep 21, 2021)
Evidence details
Benign
(Feb 16, 2016)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000802553.1
Submitted: (May 23, 2018)
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 rs291466...

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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 Sep 25, 2021