NM_014225.6(PPP2R1A):c.532A>G (p.Thr178Ala) AND Houge-Janssens syndrome 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 23, 2023
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:: RCV003128303.1

Allele description [Variation Report for NM_014225.6(PPP2R1A):c.532A>G (p.Thr178Ala)]

NM_014225.6(PPP2R1A):c.532A>G (p.Thr178Ala)

Gene:

PPP2R1A:protein phosphatase 2 scaffold subunit Aalpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.41

Genomic location:

Preferred name:

NM_014225.6(PPP2R1A):c.532A>G (p.Thr178Ala)

HGVS:

NC_000019.10:g.52212714A>G
NG_047068.1:g.27913A>G
NG_047068.2:g.27664A>G
NM_001363656.2:c.-6A>G
NM_014225.6:c.532A>GMANE SELECT
NP_055040.2:p.Thr178Ala
NC_000019.9:g.52715967A>G
NR_033500.2:n.476A>G

Protein change:

T178A

Molecular consequence:

NM_001363656.2:c.-6A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_014225.6:c.532A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_033500.2:n.476A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Houge-Janssens syndrome 2
Synonyms:: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 36
Identifiers:: MONDO: MONDO:0014605; MedGen: C4225352; Orphanet: 457284; OMIM: 616362

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003804723	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 23, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003804723

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 23, 2023)

unknown

clinical testing

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV003804723.1

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

Description

_x000D_ Criteria applied: PM5_STR, PM1, PM2_SUP

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

Last Updated: Apr 15, 2024

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