ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Feb 26, 2022
- Most recent Submission:
- Feb 26, 2022
- Last evaluated:
- Feb 22, 2022
- Accession:
- VCV001342159.2
- Variation ID:
- 1342159
- Description:
- single nucleotide variant
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NM_021968.4(H4C11):c.274A>G (p.Lys92Glu)
- Allele ID
- 1333657
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 6p22.1
- Genomic location
- 6: 27824398 (GRCh38) GRCh38 UCSC
- 6: 27792176 (GRCh37) GRCh37 UCSC
- HGVS
-
Nucleotide Protein Molecular
consequenceNM_021968.4:c.274A>G MANE Select NP_068803.1:p.Lys92Glu missense NC_000006.12:g.27824398A>G NC_000006.11:g.27792176A>G - Protein change
- K92E
- Other names
- K91E
- Canonical SPDI
- NC_000006.12:27824397:A:G
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- OMIM: 602826.0001
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Feb 22, 2022 | RCV001838835.2 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Feb 22, 2022)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV002098383.1
First in ClinVar: Feb 26, 2022 Last updated: Feb 26, 2022 |
Comment on evidence:
In a 14-year-old Hispanic boy with Tessadori-van Haaften neurodevelopmental syndrome-2 (TEVANED2; 619759), Tessadori et al. (2020) identified a de novo heterozygous c.274A-G transition (chr6.27792176A-G, GRCh37) … (more)
In a 14-year-old Hispanic boy with Tessadori-van Haaften neurodevelopmental syndrome-2 (TEVANED2; 619759), Tessadori et al. (2020) identified a de novo heterozygous c.274A-G transition (chr6.27792176A-G, GRCh37) in the HIST1H4J gene, resulting in a lys91-to-glu (K91E) substitution at a highly conserved residue. The mutation, which was found by trio-based exome sequencing, was not present in public databases, including gnomAD. Studies of patient cells were not performed, but expression of the mutation in zebrafish embryos resulted in developmental defects of the head structures, brain and eyes, body axis growth, and tail, similar to features observed in the patient. The authors noted that if the first posttranslationally removed methionine is included, the mutation is LYS92GLU. (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 |
|---|---|---|---|---|
| A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder. | Tessadori F | European journal of human genetics : EJHG | 2020 | PMID: 31804630 |
Record last updated Mar 18, 2023