NM_022089.4(ATP13A2):c.604del (p.His202fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 5, 2019
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:: RCV002358256.2

Allele description [Variation Report for NM_022089.4(ATP13A2):c.604del (p.His202fs)]

NM_022089.4(ATP13A2):c.604del (p.His202fs)

Gene:

ATP13A2:ATPase cation transporting 13A2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_022089.4(ATP13A2):c.604del (p.His202fs)

HGVS:

NC_000001.11:g.17002328del
NG_009054.1:g.14602del
NM_001141973.3:c.589del
NM_001141974.3:c.589del
NM_022089.4:c.604delMANE SELECT
NP_001135445.1:p.His197fs
NP_001135446.1:p.His197fs
NP_071372.1:p.His202fs
LRG_834t1:c.604del
LRG_834:g.14602del
LRG_834p1:p.His202fs
NC_000001.10:g.17328822del
NC_000001.10:g.17328823del
NM_022089.2:c.604delC

Protein change:

H197fs

Molecular consequence:

NM_001141973.3:c.589del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001141974.3:c.589del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_022089.4:c.604del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002654608	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 5, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002654608

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 5, 2019)

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, SCV002654608.2

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

Description

The c.604delC variant, located in coding exon 7 of the ATP13A2 gene, results from a deletion of one nucleotide at nucleotide position 604, causing a translational frameshift with a predicted alternate stop codon (p.H202Mfs*10). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: Sep 29, 2024

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