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NM_203475.3(PORCN):c.49_80del (p.Cys17fs) AND Focal dermal hypoplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 31, 2019
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:
RCV001293723.1

Allele description [Variation Report for NM_203475.3(PORCN):c.49_80del (p.Cys17fs)]

NM_203475.3(PORCN):c.49_80del (p.Cys17fs)

Gene:
PORCN:porcupine O-acyltransferase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_203475.3(PORCN):c.49_80del (p.Cys17fs)
HGVS:
  • NC_000023.11:g.48509869_48509900del
  • NG_009278.1:g.5887_5918del
  • NM_001282167.2:c.-94_-63del
  • NM_022825.4:c.49_80del
  • NM_203473.3:c.49_80del
  • NM_203474.1:c.49_80del
  • NM_203475.3:c.49_80delMANE SELECT
  • NP_073736.2:p.Cys17fs
  • NP_982299.1:p.Cys17fs
  • NP_982300.1:p.Cys17fs
  • NP_982301.1:p.Cys17fs
  • NC_000023.10:g.48368257_48368288del
  • NM_203475.2:c.49_80del
Protein change:
C17fs
Links:
dbSNP: rs2061661681
NCBI 1000 Genomes Browser:
rs2061661681
Molecular consequence:
  • NM_001282167.2:c.-94_-63del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_022825.4:c.49_80del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_203473.3:c.49_80del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_203474.1:c.49_80del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_203475.3:c.49_80del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Focal dermal hypoplasia (FDH)
Synonyms:
Goltz Syndrome; Goltz Gorlin Syndrome
Identifiers:
MONDO: MONDO:0010592; MedGen: C0016395; Orphanet: 2092; OMIM: 305600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001482373Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
no assertion criteria provided
Pathogenic
(May 31, 2019) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital, SCV001482373.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2023