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NM_015443.4(KANSL1):c.706T>C (p.Ser236Pro)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2
First in ClinVar:
Dec 17, 2019
Most recent Submission:
May 16, 2022
Last evaluated:
Jan 15, 2021
Accession:
VCV000793101.5
Variation ID:
793101
Description:
single nucleotide variant
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NM_015443.4(KANSL1):c.706T>C (p.Ser236Pro)

Allele ID
785626
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 46171438 (GRCh38) GRCh38 UCSC
17: 44248804 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015443.4:c.706T>C MANE Select NP_056258.1:p.Ser236Pro missense
NM_001193465.2:c.706T>C NP_001180394.1:p.Ser236Pro missense
NM_001193466.2:c.706T>C NP_001180395.1:p.Ser236Pro missense
... more HGVS
Protein change
S236P
Other names
-
Canonical SPDI
NC_000017.11:46171437:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs747832991
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 5, 2018 RCV000976258.3
Benign 1 criteria provided, single submitter Jan 15, 2021 RCV001514264.4
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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 		1071 1218

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Benign
(Dec 05, 2018)
 criteria provided, single submitter
(Invitae Variant Classification Sherloc (09022015))
Method: clinical testing
 not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001124157.1
First in ClinVar: Dec 17, 2019
Last updated: Dec 17, 2019
Benign
(Jan 15, 2021)
 criteria provided, single submitter
(Invitae Variant Classification Sherloc (09022015))
Method: clinical testing
 Koolen-de Vries syndrome
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001722064.2
First in ClinVar: Jun 15, 2021
Last updated: May 16, 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.

Text-mined citations for rs747832991...

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These 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 Aug 24, 2022 

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