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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001482373	Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	no assertion criteria provided	Pathogenic (May 31, 2019)	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001482373

Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

no assertion criteria provided

Pathogenic
(May 31, 2019)

de novo

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2023

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