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NM_003978.5(PSTPIP1):c.-421CCTG[6] AND Pyogenic arthritis-pyoderma gangrenosum-acne syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000393343.5

Allele description [Variation Report for NM_003978.5(PSTPIP1):c.-421CCTG[6]]

NM_003978.5(PSTPIP1):c.-421CCTG[6]

Genes:
LOC130057651:ATAC-STARR-seq lymphoblastoid silent region 6694 [Gene]
PSTPIP1:proline-serine-threonine phosphatase interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q24.3
Genomic location:
Preferred name:
NM_003978.5(PSTPIP1):c.-421CCTG[6]
HGVS:
  • NC_000015.10:g.76995153CCTG[6]
  • NG_007526.1:g.5030CCTG[6]
  • NM_001321135.2:c.-421CCTG[6]
  • NM_001321136.2:c.-667CCTG[6]
  • NM_001321137.1:c.27-255CTGC[6]
  • NM_003978.5:c.-421CCTG[6]MANE SELECT
  • LRG_172t1:c.-405_-402dup
  • LRG_172:g.5030CCTG[6]
  • NC_000015.9:g.77287494CCTG[6]
  • NM_003978.3:c.-405_-402dupCCTG
  • NM_003978.4:c.-405_-402dupCCTG
  • NR_135552.2:n.28CCTG[6]
Links:
dbSNP: rs55909412
NCBI 1000 Genomes Browser:
rs55909412
Molecular consequence:
  • NM_001321135.2:c.-421CCTG[6] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001321136.2:c.-667CCTG[6] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_003978.5:c.-421CCTG[6] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001321137.1:c.27-255CTGC[6] - intron variant - [Sequence Ontology: SO:0001627]
  • NR_135552.2:n.28CCTG[6] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome (PAPA)
Synonyms:
Pyogenic arthritis, pyoderma gangrenosum and acne; Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne; Familial recurrent arthritis
Identifiers:
MONDO: MONDO:0011462; MedGen: C1858361; Orphanet: 69126; OMIM: 604416

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000393980Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000393980.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024