NM_001367805.3(KIF23):c.690A>G (p.Ile230Met) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:: Nov 23, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000900896.19

Allele description [Variation Report for NM_001367805.3(KIF23):c.690A>G (p.Ile230Met)]

NM_001367805.3(KIF23):c.690A>G (p.Ile230Met)

Gene:

KIF23:kinesin family member 23 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

Preferred name:

NM_001367805.3(KIF23):c.690A>G (p.Ile230Met)

Other names:

p.Ile230Met

HGVS:

NC_000015.10:g.69423285A>G
NG_042269.1:g.14040A>G
NM_001281301.2:c.360A>G
NM_001367804.2:c.690A>G
NM_001367805.3:c.690A>GMANE SELECT
NM_004856.7:c.690A>G
NM_138555.4:c.690A>G
NP_001268230.1:p.Ile120Met
NP_001354733.1:p.Ile230Met
NP_001354734.1:p.Ile230Met
NP_004847.2:p.Ile230Met
NP_612565.1:p.Ile230Met
LRG_1173t1:c.690A>G
LRG_1173:g.14040A>G
LRG_1173p1:p.Ile230Met
NC_000015.9:g.69715624A>G
NC_000015.9:g.69715624A>G
NM_138555.3:c.690A>G
NR_160295.2:n.807A>G
NR_160296.2:n.807A>G

Protein change:

I120M

Links:

dbSNP: rs199679829

NCBI 1000 Genomes Browser:

rs199679829

Molecular consequence:

NM_001281301.2:c.360A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001367804.2:c.690A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001367805.3:c.690A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004856.7:c.690A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_138555.4:c.690A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_160295.2:n.807A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160296.2:n.807A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001045239	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Nov 23, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004132752	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Mar 1, 2023)	germline	clinical testing	Citation Link,
SCV004227438	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 10, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005295284	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	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	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing, not provided
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001045239.4

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004132752.10

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

Description

KIF23: BS2

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004227438.1

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

Description

BS2

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

From Breakthrough Genomics, Breakthrough Genomics, SCV005295284.1

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

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

Last Updated: Oct 20, 2024

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