NM_001031689.3(PLAA):c.240_241insTAG (p.Pro81Ter) AND Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 30, 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:: RCV000995608.5

Allele description [Variation Report for NM_001031689.3(PLAA):c.240_241insTAG (p.Pro81Ter)]

NM_001031689.3(PLAA):c.240_241insTAG (p.Pro81Ter)

Gene:

PLAA:phospholipase A2 activating protein [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

9p21.2

Genomic location:

Preferred name:

NM_001031689.3(PLAA):c.240_241insTAG (p.Pro81Ter)

HGVS:

NC_000009.12:g.26935115_26935116insCTA
NM_001031689.3:c.240_241insTAGMANE SELECT
NM_001321546.2:c.240_241insTAG
NP_001026859.1:p.Pro81Ter
NP_001308475.1:p.Pro81Ter
NC_000009.11:g.26935113_26935114insCTA

Protein change:

P81*

Links:

dbSNP: rs1587185107

NCBI 1000 Genomes Browser:

rs1587185107

Molecular consequence:

NM_001031689.3:c.240_241insTAG - nonsense - [Sequence Ontology: SO:0001587]
NM_001321546.2:c.240_241insTAG - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Identifiers:: MONDO: MONDO:0060502; MedGen: C4479631; OMIM: 617527

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001149884	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Dec 30, 2019)	inherited	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001149884

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Dec 30, 2019)

inherited

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001149884.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	inherited	yes	1	blood	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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