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 by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ClinVar Genomic variation as it relates to human health
Help
- Interpretation:
-
Uncertain significance
- Review status:
- criteria provided, multiple submitters, no conflicts
- Submissions:
- 2 (Most recent: Feb 20, 2020)
- Last evaluated:
- May 5, 2019
- Accession:
- VCV000302210.4
- Variation ID:
- 302210
- Description:
- single nucleotide variant
Help
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
- Allele ID
- 324905
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 11q22.3
- Genomic location
- 11: 108147335 (GRCh38) GRCh38 UCSC
- 11: 108018062 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNC_000011.10:g.108147335C>T NC_000011.9:g.108018062C>T NM_000019.4:c.1229C>T MANE Select NP_000010.1:p.Ala410Val missense LRG_1400t1:c.1229C>T LRG_1400p1:p.Ala410Val LRG_1400:g.35631C>T NG_009888.1:g.30805C>T NG_009888.2:g.35631C>T - Protein change
- A410V
- Other names
- -
- Canonical SPDI
- NC_000011.10:108147334:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- The Genome Aggregation Database (gnomAD) 0.00006
- Trans-Omics for Precision Medicine (TOPMed) 0.00002
- The Genome Aggregation Database (gnomAD), exomes 0.00004
- Exome Aggregation Consortium (ExAC) 0.00001
- Links
- ClinGen: CA6263411
- dbSNP: rs767412638
- Varsome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Uncertain significance | 2 | criteria provided, multiple submitters, no conflicts | May 5, 2019 | RCV000341325.3 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | Supporting information
(See all) |
|---|---|---|---|---|
|
Uncertain significance
(May 05, 2019)
|
criteria provided, single submitter
Method: research
|
Deficiency of acetyl-CoA acetyltransferase
Allele origin:
germline
|
Department of Pediatrics, Gifu University
Accession: SCV000966127.1
Submitted: (May 12, 2019) |
|
|
Uncertain significance
(Jan 13, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Deficiency of acetyl-CoA acetyltransferase
Allele origin:
germline
|
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000366985.3
Submitted: (Feb 20, 2020) |
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)
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 by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. (less)
|
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 |
|---|---|---|---|---|
| Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. | Abdelkreem E | Human mutation | 2019 | PMID: 31268215 |
Text-mined citations for rs767412638...
HelpThese 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 May 31, 2020