NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 11, 2017
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:: RCV002450580.2

Allele description [Variation Report for NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro)]

NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro)

Genes:

PTCH1:patched 1 [Gene - OMIM - HGNC]
LOC100507346:uncharacterized LOC100507346 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

Preferred name:

NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro)

HGVS:

NC_000009.12:g.95467211A>G
NG_007664.1:g.54755T>C
NM_000264.5:c.2465T>CMANE SELECT
NM_001083602.3:c.2267T>C
NM_001083603.3:c.2462T>C
NM_001083604.3:c.2012T>C
NM_001083605.3:c.2012T>C
NM_001083606.3:c.2012T>C
NM_001083607.3:c.2012T>C
NM_001354918.2:c.2309T>C
NP_000255.2:p.Leu822Pro
NP_000255.2:p.Leu822Pro
NP_001077071.1:p.Leu756Pro
NP_001077071.1:p.Leu756Pro
NP_001077072.1:p.Leu821Pro
NP_001077073.1:p.Leu671Pro
NP_001077074.1:p.Leu671Pro
NP_001077075.1:p.Leu671Pro
NP_001077076.1:p.Leu671Pro
NP_001341847.1:p.Leu770Pro
LRG_515t1:c.2465T>C
LRG_515t2:c.2267T>C
LRG_515:g.54755T>C
LRG_515p1:p.Leu822Pro
LRG_515p2:p.Leu756Pro
NC_000009.11:g.98229493A>G
NM_000264.3:c.2465T>C
NM_001083602.1:c.2267T>C
NR_038982.1:n.472A>G
NR_149061.2:n.3204T>C

Protein change:

L671P

Molecular consequence:

NM_000264.5:c.2465T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001083602.3:c.2267T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001083603.3:c.2462T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001083604.3:c.2012T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001083605.3:c.2012T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001083606.3:c.2012T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001083607.3:c.2012T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354918.2:c.2309T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_038982.1:n.472A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149061.2:n.3204T>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002732335	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely pathogenic (May 11, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002732335

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely pathogenic
(May 11, 2017)

germline

clinical testing

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

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

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.

Boutet N, Bignon YJ, Drouin-Garraud V, Sarda P, Longy M, Lacombe D, Gorry P.

J Invest Dermatol. 2003 Sep;121(3):478-81.

PubMed [citation]

PMID:: 12925203

Details of each submission

From Ambry Genetics, SCV002732335.2

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

Description

The p.L822P variant (also known as c.2465T>C), located in coding exon 15 of the PTCH1 gene, results from a T to C substitution at nucleotide position 2465. The leucine at codon 822 is replaced by proline, an amino acid with very few similar properties. This alteration has been reported in two individuals in a French family diagnosed with Gorlin syndrome (Boutet N et al. J. Invest. Dermatol. 2003 Sep;121:478-81).This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be 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: May 1, 2024

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