NM_000264.5(PTCH1):c.3363del (p.His1121fs) AND Gorlin syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 10, 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:: RCV001209463.6

Allele description [Variation Report for NM_000264.5(PTCH1):c.3363del (p.His1121fs)]

NM_000264.5(PTCH1):c.3363del (p.His1121fs)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q22.32

Genomic location:

Preferred name:

NM_000264.5(PTCH1):c.3363del (p.His1121fs)

HGVS:

NC_000009.12:g.95453564del
NG_007664.1:g.68402del
NM_000264.5:c.3363delMANE SELECT
NM_001083602.3:c.3165del
NM_001083603.3:c.3360del
NM_001083604.3:c.2910del
NM_001083605.3:c.2910del
NM_001083606.3:c.2910del
NM_001083607.3:c.2910del
NM_001354918.2:c.3207del
NP_000255.2:p.His1121fs
NP_001077071.1:p.His1055fs
NP_001077072.1:p.His1120fs
NP_001077073.1:p.His970fs
NP_001077074.1:p.His970fs
NP_001077075.1:p.His970fs
NP_001077076.1:p.His970fs
NP_001341847.1:p.His1069fs
LRG_515t1:c.3363del
LRG_515:g.68402del
NC_000009.11:g.98215846del
NM_000264.3:c.3363del
NR_149061.2:n.4102del

Protein change:

H1055fs

Links:

dbSNP: rs1838661583

NCBI 1000 Genomes Browser:

rs1838661583

Molecular consequence:

NM_000264.5:c.3363del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083602.3:c.3165del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083603.3:c.3360del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083604.3:c.2910del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083605.3:c.2910del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083606.3:c.2910del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083607.3:c.2910del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354918.2:c.3207del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_149061.2:n.4102del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Recent activity

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Mus musculus inositol polyphosphate 5-phosphatase J (Inpp5j), mRNA
Mus musculus inositol polyphosphate 5-phosphatase J (Inpp5j), mRNA
gi|262231798|ref|NM_172439.3|

Nucleotide
PLA2G4F [Ursus maritimus]
PLA2G4F [Ursus maritimus]
Gene ID:103673531

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001380900	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 10, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16301862, 16419085, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001380900

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 10, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.

Klein RD, Dykas DJ, Bale AE.

Genet Med. 2005 Nov-Dec;7(9):611-9.

PubMed [citation]

PMID:: 16301862

PTCH mutations: distribution and analyses.

Lindström E, Shimokawa T, Toftgård R, Zaphiropoulos PG.

Hum Mutat. 2006 Mar;27(3):215-9. Review.

PubMed [citation]

PMID:: 16419085

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001380900.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

Loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085). This variant has not been reported in the literature in individuals with PTCH1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His1121Glnfs*18) in the PTCH1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024

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