Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_153186.5(KANK1):c.2763C>G (p.Ile921Met)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 29, 2017)
Accession:
VCV000402188.1
Variation ID:
402188
Description:
single nucleotide variant
Help

NM_153186.5(KANK1):c.2763C>G (p.Ile921Met)

Allele ID
389139
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p24.3
Genomic location
9: 732609 (GRCh38) GRCh38 UCSC
9: 732609 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.732609C>G
NC_000009.12:g.732609C>G
NM_001256876.2:c.3237C>G NP_001243805.1:p.Ile1079Met missense
... more HGVS
Protein change
I1079M, I921M, I903M, I1061M
Other names
-
Canonical SPDI
NC_000009.12:732608:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA16609520
dbSNP: rs372628779
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter - RCV000454209.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
KANK1 No evidence available No evidence available GRCh38
GRCh37
244 493

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: research
Abnormality of brain morphology
(Autosomal recessive inheritance)
Allele origin: inherited
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
Accession: SCV000537967.1
Submitted: (Mar 29, 2017)
Evidence details
Publications
PubMed (1)

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
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Karaca E Neuron 2015 PMID: 26539891

Text-mined citations for rs372628779...

Help
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 20, 2020