NM_003978.5(PSTPIP1):c.355-16C>G AND Pyogenic arthritis-pyoderma gangrenosum-acne syndrome

Clinical significance:Likely benign (Last evaluated: Mar 27, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001002445.1

Allele description [Variation Report for NM_003978.5(PSTPIP1):c.355-16C>G]

NM_003978.5(PSTPIP1):c.355-16C>G

Gene:
PSTPIP1:proline-serine-threonine phosphatase interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.3
Genomic location:
Preferred name:
NM_003978.5(PSTPIP1):c.355-16C>G
HGVS:
  • NC_000015.10:g.77027836C>G
  • NG_007526.1:g.37713C>G
  • NM_001321135.2:c.355-16C>G
  • NM_001321136.2:c.328-16C>G
  • NM_001321137.1:c.550-16C>G
  • NM_003978.5:c.355-16C>GMANE SELECT
  • LRG_172t1:c.355-16C>G
  • LRG_172:g.37713C>G
  • NC_000015.9:g.77320177C>G
  • NM_003978.3:c.355-16C>G
Links:
dbSNP: rs767272289
NCBI 1000 Genomes Browser:
rs767272289
Molecular consequence:
  • NM_001321135.2:c.355-16C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321136.2:c.328-16C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321137.1:c.550-16C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003978.5:c.355-16C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001160385ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Mar 27, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001160385.1

#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 7, 2021

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