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 a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Benign/Likely benign
- Review status:
- criteria provided, multiple submitters, no conflicts
- Submissions:
- 3
- First in ClinVar:
- Mar 8, 2017
- Most recent Submission:
- Feb 7, 2023
- Last evaluated:
- Sep 19, 2022
- Accession:
- VCV000377995.9
- Variation ID:
- 377995
- Description:
- single nucleotide variant
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NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=)
- Allele ID
- 378317
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 46031488 (GRCh38) GRCh38 UCSC
- 17: 44108854 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_015443.4:c.3306G>A MANE Select NP_056258.1:p.Pro1102= synonymous NM_001193465.2:c.3303G>A NP_001180394.1:p.Pro1101= synonymous NM_001193466.2:c.3306G>A NP_001180395.1:p.Pro1102= synonymous NM_001379198.1:c.3306G>A NP_001366127.1:p.Pro1102= synonymous NC_000017.11:g.46031488C>T NC_000017.10:g.44108854C>T NG_032784.1:g.198887G>A - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000017.11:46031487:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- Trans-Omics for Precision Medicine (TOPMed) 0.00002
- The Genome Aggregation Database (gnomAD) 0.00006
- Links
- ClinGen: CA8618322
- dbSNP: rs143746890
- 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 | Sep 19, 2022 | RCV000866421.8 | |
| Likely benign | 1 | criteria provided, single submitter | Feb 5, 2016 | RCV000419139.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely benign
(Feb 05, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000513331.4
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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)
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 a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
|
|
Likely benign
(Aug 06, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Koolen-de Vries syndrome
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002810151.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
|
Benign
(Sep 19, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Koolen-de Vries syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001007511.5
First in ClinVar: Dec 17, 2019 Last updated: Feb 07, 2023 |
|
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| 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 rs143746890...
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 Feb 07, 2023