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NM_015443.4(KANSL1):c.431G>C (p.Ser144Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Apr 13, 2021
Most recent Submission:
Jun 3, 2022
Last evaluated:
Sep 17, 2021
Accession:
VCV001058738.2
Variation ID:
1058738
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.431G>C (p.Ser144Thr)

Allele ID
1050348
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46171713 (GRCh38) GRCh38 UCSC
17: 44249079 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.431G>C MANE Select NP_056258.1:p.Ser144Thr missense
NM_001193465.2:c.431G>C NP_001180394.1:p.Ser144Thr missense
NM_001193466.2:c.431G>C NP_001180395.1:p.Ser144Thr missense
... more HGVS
Protein change
S144T
Other names
-
Canonical SPDI
NC_000017.11:46171712:C:G
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
Uncertain significance 1 criteria provided, single submitter Sep 17, 2021 RCV001367911.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KANSL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh38
GRCh37
1056 1199

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Sep 17, 2021)
criteria provided, single submitter
Method: clinical testing
Koolen-de Vries syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001564282.2
First in ClinVar: Apr 13, 2021
Last updated: Jun 03, 2022

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.

Record last updated Jun 03, 2022