NM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln) AND Cerebral palsy, spastic quadriplegic, 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 27, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002490250.1

Allele description [Variation Report for NM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln)]

NM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln)

Genes:

KANK1:KN motif and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
LOC126860554:MED14-independent group 3 enhancer GRCh37_chr9:737889-739088 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.3

Genomic location:

Preferred name:

NM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln)

HGVS:

NC_000009.12:g.738477G>C
NG_016331.2:g.273184G>C
NM_001256876.3:c.3526G>C
NM_001256877.3:c.3526G>C
NM_001354331.2:c.3286G>C
NM_001354332.2:c.3472G>C
NM_001354333.2:c.3052G>C
NM_001354334.2:c.3526G>C
NM_001354335.2:c.3052G>C
NM_001354336.2:c.2758G>C
NM_001354337.2:c.3052G>C
NM_001354338.2:c.2998G>C
NM_001354339.2:c.2812G>C
NM_001354340.2:c.2998G>C
NM_001354341.2:c.3052G>C
NM_001354342.2:c.2812G>C
NM_001354343.2:c.2812G>C
NM_001354344.2:c.2998G>C
NM_015158.5:c.3526G>CMANE SELECT
NM_153186.6:c.3052G>C
NP_001243805.1:p.Glu1176Gln
NP_001243806.1:p.Glu1176Gln
NP_001341260.1:p.Glu1096Gln
NP_001341261.1:p.Glu1158Gln
NP_001341262.1:p.Glu1018Gln
NP_001341263.1:p.Glu1176Gln
NP_001341264.1:p.Glu1018Gln
NP_001341265.1:p.Glu920Gln
NP_001341266.1:p.Glu1018Gln
NP_001341267.1:p.Glu1000Gln
NP_001341268.1:p.Glu938Gln
NP_001341269.1:p.Glu1000Gln
NP_001341270.1:p.Glu1018Gln
NP_001341271.1:p.Glu938Gln
NP_001341272.1:p.Glu938Gln
NP_001341273.1:p.Glu1000Gln
NP_055973.2:p.Glu1176Gln
NP_694856.1:p.Glu1018Gln
NC_000009.11:g.738477G>C
NR_148869.2:n.3654G>C

Protein change:

E1000Q

Links:

dbSNP: rs200239036

NCBI 1000 Genomes Browser:

rs200239036

Molecular consequence:

NM_001256876.3:c.3526G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256877.3:c.3526G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354331.2:c.3286G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354332.2:c.3472G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354333.2:c.3052G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354334.2:c.3526G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354335.2:c.3052G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354336.2:c.2758G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354337.2:c.3052G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354338.2:c.2998G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354339.2:c.2812G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354340.2:c.2998G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354341.2:c.3052G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354342.2:c.2812G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354343.2:c.2812G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354344.2:c.2998G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_015158.5:c.3526G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_153186.6:c.3052G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_148869.2:n.3654G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Cerebral palsy, spastic quadriplegic, 2 (CPSQ2)
Identifiers:: MONDO: MONDO:0013033; MedGen: C2752061; Orphanet: 210141; OMIM: 612900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002783379	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 27, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002783379

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 27, 2022)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002783379.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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