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NM_014225.6(PPP2R1A):c.343A>G (p.Ile115Val) AND Houge-Janssens syndrome 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 2024
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:
RCV003989724.2

Allele description [Variation Report for NM_014225.6(PPP2R1A):c.343A>G (p.Ile115Val)]

NM_014225.6(PPP2R1A):c.343A>G (p.Ile115Val)

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.343A>G (p.Ile115Val)
HGVS:
  • NC_000019.10:g.52211332A>G
  • NG_047068.1:g.26531A>G
  • NM_001363656.2:c.-195A>G
  • NM_014225.6:c.343A>GMANE SELECT
  • NP_055040.2:p.Ile115Val
  • NC_000019.9:g.52714585A>G
  • NR_033500.2:n.287A>G
Protein change:
I115V
Links:
dbSNP: rs965521747
NCBI 1000 Genomes Browser:
rs965521747
Molecular consequence:
  • NM_001363656.2:c.-195A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_014225.6:c.343A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033500.2:n.287A>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004807507Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 29, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004807507.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024