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NM_176869.3(PPA2):c.346C>T (p.Pro116Ser) AND Sudden cardiac failure, infantile

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 2, 2021
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:
RCV001638063.1

Allele description [Variation Report for NM_176869.3(PPA2):c.346C>T (p.Pro116Ser)]

NM_176869.3(PPA2):c.346C>T (p.Pro116Ser)

Gene:
PPA2:inorganic pyrophosphatase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q24
Genomic location:
Preferred name:
NM_176869.3(PPA2):c.346C>T (p.Pro116Ser)
HGVS:
  • NC_000004.12:g.105446478G>A
  • NG_053007.1:g.32593C>T
  • NM_006903.4:c.346C>T
  • NM_176866.2:c.222+10203C>T
  • NM_176867.3:c.157+27416C>T
  • NM_176869.3:c.346C>TMANE SELECT
  • NP_008834.3:p.Pro116Ser
  • NP_789845.1:p.Pro116Ser
  • NC_000004.11:g.106367635G>A
  • NM_176869.2:c.346C>T
Protein change:
P116S
Links:
dbSNP: rs373735128
NCBI 1000 Genomes Browser:
rs373735128
Molecular consequence:
  • NM_176866.2:c.222+10203C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_176867.3:c.157+27416C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006903.4:c.346C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_176869.3:c.346C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Sudden cardiac failure, infantile (SCFI)
Identifiers:
MONDO: MONDO:0014973; MedGen: C4310664; OMIM: 617222

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001548254PPA2 laboratory, University of Otago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 2, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 PPA2 laboratory, University of Otago, SCV001548254.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024