NM_001374623.1(PNPLA1):c.266C>T (p.Pro89Leu) AND Autosomal recessive congenital ichthyosis 10

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000504559.2

Allele description [Variation Report for NM_001374623.1(PNPLA1):c.266C>T (p.Pro89Leu)]

NM_001374623.1(PNPLA1):c.266C>T (p.Pro89Leu)

Gene:
PNPLA1:patatin like phospholipase domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_001374623.1(PNPLA1):c.266C>T (p.Pro89Leu)
HGVS:
  • NC_000006.12:g.36291380C>T
  • NG_032813.1:g.53213C>T
  • NM_001145716.2:c.-20C>T
  • NM_001145717.1:c.266C>T
  • NM_001374623.1:c.266C>TMANE SELECT
  • NM_173676.2:c.-20C>T
  • NP_001139189.2:p.Pro89Leu
  • NP_001361552.1:p.Pro89Leu
  • NC_000006.11:g.36259157C>T
Protein change:
P89L
Links:
dbSNP: rs922934422
NCBI 1000 Genomes Browser:
rs922934422
Molecular consequence:
  • NM_001145716.2:c.-20C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_173676.2:c.-20C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001145717.1:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374623.1:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive congenital ichthyosis 10 (ARCI10)
Identifiers:
MONDO: MONDO:0014011; MedGen: C3554355; Orphanet: 79394; OMIM: 615024

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492510Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde, INSERM - Université Paul Sabatier
no assertion criteria provided
Likely pathogenicgermlineresearch, provider interpretation

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes21not providednot providednot providedresearch
not providedgermlineno21not providednot providednot providedprovider interpretation

Citations

PubMed

PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.

Pichery M, Huchenq A, Sandhoff R, Severino-Freire M, Zaafouri S, Opálka L, Levade T, Soldan V, Bertrand-Michel J, Lhuillier E, Serre G, Maruani A, Mazereeuw-Hautier J, Jonca N.

Hum Mol Genet. 2017 May 15;26(10):1787-1800. doi: 10.1093/hmg/ddx079.

PubMed [citation]
PMID:
28369476

Details of each submission

From Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde, INSERM - Université Paul Sabatier, SCV000492510.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (1)
2not provided2not providednot providedprovider interpretation PubMed (1)

Description

This variant has been seen as a compound heterozygote with this variant : c.[418T>C], [p.Ser140Pro]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not provided1not provided
2germlinenonot providednot providednot provided2not provided1not provided

Last Updated: Jun 23, 2024