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NM_203475.3(PORCN):c.329+1G>C AND Focal dermal hypoplasia

Germline classification:
Uncertain significance (1 submission)
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:
RCV003330152.2

Allele description [Variation Report for NM_203475.3(PORCN):c.329+1G>C]

NM_203475.3(PORCN):c.329+1G>C

Gene:
PORCN:porcupine O-acyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_203475.3(PORCN):c.329+1G>C
HGVS:
  • NC_000023.11:g.48511488G>C
  • NG_009278.1:g.7506G>C
  • NM_001282167.2:c.116+1G>C
  • NM_022825.4:c.329+1G>C
  • NM_203473.3:c.329+1G>C
  • NM_203474.1:c.329+1G>C
  • NM_203475.3:c.329+1G>CMANE SELECT
  • NC_000023.10:g.48369876G>C
Molecular consequence:
  • NM_001282167.2:c.116+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_022825.4:c.329+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_203473.3:c.329+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_203474.1:c.329+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_203475.3:c.329+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV004037148Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlinenot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providednot provided

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 Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, SCV004037148.1

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

Last Updated: Jun 23, 2024