NM_000264.5(PTCH1):c.3384del (p.Asp1128fs) AND Gorlin syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 5, 2019
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:: RCV001253184.1

Allele description [Variation Report for NM_000264.5(PTCH1):c.3384del (p.Asp1128fs)]

NM_000264.5(PTCH1):c.3384del (p.Asp1128fs)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q22.32

Genomic location:

Preferred name:

NM_000264.5(PTCH1):c.3384del (p.Asp1128fs)

HGVS:

NC_000009.12:g.95453543del
NG_007664.1:g.68423del
NM_000264.5:c.3384delMANE SELECT
NM_001083602.3:c.3186del
NM_001083603.3:c.3381del
NM_001083604.3:c.2931del
NM_001083605.3:c.2931del
NM_001083606.3:c.2931del
NM_001083607.3:c.2931del
NM_001354918.2:c.3228del
NP_000255.2:p.Asp1128fs
NP_001077071.1:p.Asp1062fs
NP_001077072.1:p.Asp1127fs
NP_001077073.1:p.Asp977fs
NP_001077074.1:p.Asp977fs
NP_001077075.1:p.Asp977fs
NP_001077076.1:p.Asp977fs
NP_001341847.1:p.Asp1076fs
LRG_515t1:c.3384del
LRG_515:g.68423del
NC_000009.11:g.98215825del
NM_000264.3:c.3384del
NR_149061.2:n.4123del

Protein change:

D1062fs

Links:

dbSNP: rs1838658874

NCBI 1000 Genomes Browser:

rs1838658874

Molecular consequence:

NM_000264.5:c.3384del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083602.3:c.3186del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083603.3:c.3381del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083604.3:c.2931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083605.3:c.2931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083606.3:c.2931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083607.3:c.2931del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354918.2:c.3228del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_149061.2:n.4123del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Gorlin syndrome
Synonyms:: Basal cell nevus syndrome
Identifiers:: MONDO: MONDO:0007187; MedGen: C0004779; Orphanet: 377; OMIM: PS109400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001428775	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 5, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001428775

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 5, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

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 of Human Genetics, University of Leipzig Medical Center, SCV001428775.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Sep 29, 2024

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