NM_015158.5(KANK1):c.3237C>G (p.Ile1079Met) AND Abnormality of brain morphology

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_015158.5(KANK1):c.3237C>G (p.Ile1079Met)]

NM_015158.5(KANK1):c.3237C>G (p.Ile1079Met)

KANK1:KN motif and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_015158.5(KANK1):c.3237C>G (p.Ile1079Met)
  • NC_000009.12:g.732609C>G
  • NG_016331.2:g.267316C>G
  • NM_001256876.3:c.3237C>G
  • NM_001256877.3:c.3237C>G
  • NM_001354331.2:c.3005+1343C>G
  • NM_001354332.2:c.3183C>G
  • NM_001354333.2:c.2763C>G
  • NM_001354334.2:c.3237C>G
  • NM_001354335.2:c.2763C>G
  • NM_001354336.2:c.2477+1343C>G
  • NM_001354337.2:c.2763C>G
  • NM_001354338.2:c.2709C>G
  • NM_001354339.2:c.2531+1343C>G
  • NM_001354340.2:c.2709C>G
  • NM_001354341.2:c.2763C>G
  • NM_001354342.2:c.2531+1343C>G
  • NM_001354343.2:c.2531+1343C>G
  • NM_001354344.2:c.2709C>G
  • NM_015158.5:c.3237C>GMANE SELECT
  • NM_153186.6:c.2763C>G
  • NP_001243805.1:p.Ile1079Met
  • NP_001243806.1:p.Ile1079Met
  • NP_001341261.1:p.Ile1061Met
  • NP_001341262.1:p.Ile921Met
  • NP_001341263.1:p.Ile1079Met
  • NP_001341264.1:p.Ile921Met
  • NP_001341266.1:p.Ile921Met
  • NP_001341267.1:p.Ile903Met
  • NP_001341269.1:p.Ile903Met
  • NP_001341270.1:p.Ile921Met
  • NP_001341273.1:p.Ile903Met
  • NP_055973.2:p.Ile1079Met
  • NP_694856.1:p.Ile921Met
  • NC_000009.11:g.732609C>G
  • NM_153186.4:c.2763C>G
Protein change:
dbSNP: rs372628779
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001354331.2:c.3005+1343C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354336.2:c.2477+1343C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354339.2:c.2531+1343C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354342.2:c.2531+1343C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354343.2:c.2531+1343C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256876.3:c.3237C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256877.3:c.3237C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354332.2:c.3183C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354333.2:c.2763C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354334.2:c.3237C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354335.2:c.2763C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354337.2:c.2763C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354338.2:c.2709C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354340.2:c.2709C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354341.2:c.2763C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354344.2:c.2709C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015158.5:c.3237C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153186.6:c.2763C>G - missense variant - [Sequence Ontology: SO:0001583]


Abnormality of brain morphology
Abnormality of the brain; Abnormal shape of brain
MedGen: C4021085; Human Phenotype Ontology: HP:0012443

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000537967Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicinecriteria provided, single submitter
Likely pathogenicinheritedresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch



Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, et al.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

PubMed [citation]

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000537967.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providedBloodnot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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