NM_001387690.1(KATNAL2):c.749A>G (p.Asn250Ser) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 31, 2017
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:: RCV004026888.1

Allele description [Variation Report for NM_001387690.1(KATNAL2):c.749A>G (p.Asn250Ser)]

NM_001387690.1(KATNAL2):c.749A>G (p.Asn250Ser)

Gene:

KATNAL2:katanin catalytic subunit A1 like 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.1

Genomic location:

Preferred name:

NM_001387690.1(KATNAL2):c.749A>G (p.Asn250Ser)

HGVS:

NC_000018.10:g.47067043A>G
NM_001353899.1:c.827A>G
NM_001353900.1:c.824A>G
NM_001353901.1:c.749A>G
NM_001353902.1:c.805-2177A>G
NM_001353903.1:c.416A>G
NM_001353904.1:c.394-2177A>G
NM_001353905.1:c.416A>G
NM_001353906.1:c.416A>G
NM_001353907.1:c.416A>G
NM_001353908.1:c.394-2177A>G
NM_001353909.1:c.394-2177A>G
NM_001367621.1:c.749A>G
NM_001387690.1:c.749A>GMANE SELECT
NM_031303.3:c.533A>G
NP_001340828.1:p.Asn276Ser
NP_001340829.1:p.Asn275Ser
NP_001340830.1:p.Asn250Ser
NP_001340832.1:p.Asn139Ser
NP_001340834.1:p.Asn139Ser
NP_001340835.1:p.Asn139Ser
NP_001340836.1:p.Asn139Ser
NP_001354550.1:p.Asn250Ser
NP_001374619.1:p.Asn250Ser
NP_112593.2:p.Asn178Ser
NC_000018.9:g.44593414A>G
NM_031303.2:c.533A>G

Protein change:

N139S

Links:

dbSNP: rs776011849

NCBI 1000 Genomes Browser:

rs776011849

Molecular consequence:

NM_001353902.1:c.805-2177A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001353904.1:c.394-2177A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001353908.1:c.394-2177A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001353909.1:c.394-2177A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001353899.1:c.827A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353900.1:c.824A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353901.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353903.1:c.416A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353905.1:c.416A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353906.1:c.416A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353907.1:c.416A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001367621.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001387690.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_031303.3:c.533A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000849866	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 31, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000849866

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 31, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000849866.5

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

Description

The p.N178S variant (also known as c.533A>G), located in coding exon 7 of the KATNAL2 gene, results from an A to G substitution at nucleotide position 533. The asparagine at codon 178 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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

Last Updated: Jun 9, 2024

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