NM_000264.5(PTCH1):c.724C>T (p.Gln242Ter) AND Gorlin syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 25, 2023
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:: RCV001038755.5

Allele description

NM_000264.5(PTCH1):c.724C>T (p.Gln242Ter)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

Preferred name:

NM_000264.5(PTCH1):c.724C>T (p.Gln242Ter)

HGVS:

NC_000009.12:g.95481971G>A
NG_007664.1:g.39995C>T
NM_000264.5:c.724C>TMANE SELECT
NM_001083602.3:c.526C>T
NM_001083603.3:c.721C>T
NM_001083604.3:c.271C>T
NM_001083605.3:c.271C>T
NM_001083606.3:c.271C>T
NM_001083607.3:c.271C>T
NM_001354918.2:c.724C>T
NM_001354919.2:c.526C>T
NP_000255.2:p.Gln242Ter
NP_001077071.1:p.Gln176Ter
NP_001077072.1:p.Gln241Ter
NP_001077073.1:p.Gln91Ter
NP_001077074.1:p.Gln91Ter
NP_001077075.1:p.Gln91Ter
NP_001077076.1:p.Gln91Ter
NP_001341847.1:p.Gln242Ter
NP_001341848.1:p.Gln176Ter
LRG_515t1:c.724C>T
LRG_515:g.39995C>T
NC_000009.11:g.98244253G>A
NM_000264.3:c.724C>T
NR_149061.2:n.1629C>T

Protein change:

Q176*

Links:

dbSNP: rs376353501

NCBI 1000 Genomes Browser:

rs376353501

Molecular consequence:

NR_149061.2:n.1629C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000264.5:c.724C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001083602.3:c.526C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001083603.3:c.721C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001083604.3:c.271C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001083605.3:c.271C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001083606.3:c.271C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001083607.3:c.271C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354918.2:c.724C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354919.2:c.526C>T - nonsense - [Sequence Ontology: SO:0001587]

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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early growth response protein 3 [Rattus norvegicus]
early growth response protein 3 [Rattus norvegicus]
gi|8393305|ref|NP_058782.1|

Protein
dnaJ homolog subfamily B member 14 isoform 2 [Homo sapiens]
dnaJ homolog subfamily B member 14 isoform 2 [Homo sapiens]
gi|507144086|ref|NP_001265239.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001202244	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 25, 2023)	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

SCV001202244

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 25, 2023)

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 Invitae, SCV001202244.5

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

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 837425). This variant has not been reported in the literature in individuals affected with PTCH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln242*) in the PTCH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085).

#	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 16, 2024

ClinVar

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