ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Likely benign
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- Apr 8, 2022
- Most recent Submission:
- Apr 8, 2022
- Last evaluated:
- Oct 24, 2021
- Accession:
- VCV001612864.3
- Variation ID:
- 1612864
- Description:
- single nucleotide variant
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NM_015443.4(KANSL1):c.3237G>T (p.Ala1079=)
- Allele ID
- 1663015
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46031557 (GRCh38) GRCh38 UCSC
- 17: 44108923 (GRCh37) GRCh37 UCSC
- HGVS
-
Nucleotide Protein Molecular
consequenceNM_015443.4:c.3237G>T MANE Select NP_056258.1:p.Ala1079= synonymous NM_001193465.2:c.3234G>T NP_001180394.1:p.Ala1078= synonymous NM_001193466.2:c.3237G>T NP_001180395.1:p.Ala1079= synonymous NM_001379198.1:c.3237G>T NP_001366127.1:p.Ala1079= synonymous NC_000017.11:g.46031557C>A NC_000017.10:g.44108923C>A NG_032784.1:g.198818G>T - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000017.11:46031556:C:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- VarSome
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Aggregate interpretations per condition
Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|---|
Likely benign | 1 | criteria provided, single submitter | Oct 24, 2021 | RCV002183052.3 |
Submitted interpretations and evidence
HelpInterpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
---|---|---|---|---|---|
Likely benign
(Oct 24, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Koolen-de Vries syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV002423205.1
First in ClinVar: Apr 08, 2022 Last updated: Apr 08, 2022 |
|
Functional evidence
HelpThere 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
HelpThere are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Record last updated Aug 24, 2022