NM_022089.4(ATP13A2):c.348-9_351del AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 30, 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:: RCV000598141.4

Allele description [Variation Report for NM_022089.4(ATP13A2):c.348-9_351del]

NM_022089.4(ATP13A2):c.348-9_351del

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.348-9_351del

HGVS:

NC_000001.10:g.17331313_17331325del
NC_000001.11:g.17004822_17004834del
NG_009054.1:g.12099_12111del
NM_001141973.3:c.348-9_351del
NM_001141974.3:c.348-9_351del
NM_022089.4:c.348-9_351delMANE SELECT
LRG_834t1:c.348-9_351del
LRG_834:g.12099_12111del
NC_000001.10:g.17331313_17331325del
NC_000001.10:g.17331313_17331325delCAGGCTGGGGAAG
NC_000001.10:g.17331317_17331329del
NM_022089.2:c.348-9_351del13

Links:

dbSNP: rs749798211

NCBI 1000 Genomes Browser:

rs749798211

Molecular consequence:

NM_001141973.3:c.348-9_351del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001141974.3:c.348-9_351del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_022089.4:c.348-9_351del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000708759	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (May 30, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000708759

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(May 30, 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 Eurofins Ntd Llc (ga), SCV000708759.2

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

#	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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