NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 6, 2014
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:: RCV000492549.3

Allele description [Variation Report for NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs)]

NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q22.32

Genomic location:

Preferred name:

NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs)

HGVS:

NC_000009.12:g.95453562_95453563del
NG_007664.1:g.68403_68404del
NM_000264.5:c.3364_3365delMANE SELECT
NM_001083602.3:c.3166_3167del
NM_001083603.3:c.3361_3362del
NM_001083604.3:c.2911_2912del
NM_001083605.3:c.2911_2912del
NM_001083606.3:c.2911_2912del
NM_001083607.3:c.2911_2912del
NM_001354918.2:c.3208_3209del
NP_000255.2:p.Met1122fs
NP_001077071.1:p.Met1056fs
NP_001077072.1:p.Met1121fs
NP_001077073.1:p.Met971fs
NP_001077074.1:p.Met971fs
NP_001077075.1:p.Met971fs
NP_001077076.1:p.Met971fs
NP_001341847.1:p.Met1070fs
LRG_515t1:c.3364_3365del
LRG_515:g.68403_68404del
NC_000009.11:g.98215844_98215845del
NM_000264.3:c.3364_3365delAT
NR_149061.2:n.4103_4104del

Protein change:

M1056fs

Links:

dbSNP: rs1060502273

NCBI 1000 Genomes Browser:

rs1060502273

Molecular consequence:

NM_000264.5:c.3364_3365del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083602.3:c.3166_3167del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083603.3:c.3361_3362del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083604.3:c.2911_2912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083605.3:c.2911_2912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083606.3:c.2911_2912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001083607.3:c.2911_2912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354918.2:c.3208_3209del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_149061.2:n.4103_4104del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000581021	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Nov 6, 2014)	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

SCV000581021

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Nov 6, 2014)

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

Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, Suthers G, Haites N, Edwards M, Wainwright B, Chenevix-Trench G.

Am J Hum Genet. 1997 Jan;60(1):21-6.

PubMed [citation]

PMID:: 8981943
PMCID:: PMC1712561

Details of each submission

From Ambry Genetics, SCV000581021.6

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

Description

The c.3364_3365delAT pathogenic mutation, located in coding exon 20 of the PTCH1 gene, results from a deletion of 2 nucleotides between positions 3364 and 3365, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#	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

ClinVar

Relating variation to medicine