NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 13, 2024
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:: RCV004020747.1

Allele description [Variation Report for NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)]

NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)

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.3394T>C (p.Ser1132Pro)

HGVS:

NC_000009.12:g.95453533A>G
NG_007664.1:g.68433T>C
NM_000264.5:c.3394T>CMANE SELECT
NM_001083602.3:c.3196T>C
NM_001083603.3:c.3391T>C
NM_001083604.3:c.2941T>C
NM_001083605.3:c.2941T>C
NM_001083606.3:c.2941T>C
NM_001083607.3:c.2941T>C
NM_001354918.2:c.3238T>C
NP_000255.2:p.Ser1132Pro
NP_001077071.1:p.Ser1066Pro
NP_001077072.1:p.Ser1131Pro
NP_001077073.1:p.Ser981Pro
NP_001077074.1:p.Ser981Pro
NP_001077075.1:p.Ser981Pro
NP_001077076.1:p.Ser981Pro
NP_001341847.1:p.Ser1080Pro
LRG_515t1:c.3394T>C
LRG_515:g.68433T>C
NC_000009.11:g.98215815A>G
NM_000264.3:c.3394T>C
NR_149061.2:n.4133T>C
Q13635:p.Ser1132Pro

Protein change:

S1066P

Links:

UniProtKB: Q13635#VAR_010980; dbSNP: rs878853856

NCBI 1000 Genomes Browser:

rs878853856

Molecular consequence:

NM_000264.5:c.3394T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001083602.3:c.3196T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001083603.3:c.3391T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001083604.3:c.2941T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001083605.3:c.2941T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001083606.3:c.2941T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001083607.3:c.2941T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354918.2:c.3238T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_149061.2:n.4133T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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protein kinase C and casein kinase II substrate protein 3 [Mus musculus]
protein kinase C and casein kinase II substrate protein 3 [Mus musculus]
gi|28077027|ref|NP_083009.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005034106	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Mar 13, 2024)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 11231326, 23951062, 24204797, 26544948 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005034106

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Mar 13, 2024)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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

Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer.

Reifenberger J, Arnold N, Kiechle M, Reifenberger G, Hauschild A.

J Invest Dermatol. 2001 Mar;116(3):472-4. No abstract available.

PubMed [citation]

PMID:: 11231326

Integrated genotypic analysis of hedgehog-related genes identifies subgroups of keratocystic odontogenic tumor with distinct clinicopathological features.

Shimada Y, Katsube K, Kabasawa Y, Morita K, Omura K, Yamaguchi A, Sakamoto K.

PLoS One. 2013;8(8):e70995. doi: 10.1371/journal.pone.0070995.

PubMed [citation]

PMID:: 23951062
PMCID:: PMC3737235

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV005034106.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The p.S1132P pathogenic mutation (also known as c.3394T>C), located in coding exon 20 of the PTCH1 gene, results from a T to C substitution at nucleotide position 3394. The serine at codon 1132 is replaced by proline, an amino acid with similar properties. This variant has been observed in multiple individual with a personal and/or family history that is consistent with Nevoid basal cell carcinoma syndrome (Reifenberger J et al. J Invest Dermatol, 2001 Mar;116:472-4; Shimada Y et al. PLoS One, 2013 Aug;8:e70995; Guo YY et al. PLoS One, 2013 Oct;8:e77305; Morita K et al. PLoS One, 2015 Nov;10:e0140480; Ambry internal data). In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#	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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