NM_000264.5(PTCH1):c.3428C>G (p.Ser1143Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 3, 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:: RCV003382217.2

Allele description [Variation Report for NM_000264.5(PTCH1):c.3428C>G (p.Ser1143Cys)]

NM_000264.5(PTCH1):c.3428C>G (p.Ser1143Cys)

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.3428C>G (p.Ser1143Cys)

HGVS:

NC_000009.12:g.95453499G>C
NG_007664.1:g.68467C>G
NM_000264.5:c.3428C>GMANE SELECT
NM_001083602.3:c.3230C>G
NM_001083603.3:c.3425C>G
NM_001083604.3:c.2975C>G
NM_001083605.3:c.2975C>G
NM_001083606.3:c.2975C>G
NM_001083607.3:c.2975C>G
NM_001354918.2:c.3272C>G
NP_000255.2:p.Ser1143Cys
NP_000255.2:p.Ser1143Cys
NP_001077071.1:p.Ser1077Cys
NP_001077071.1:p.Ser1077Cys
NP_001077072.1:p.Ser1142Cys
NP_001077073.1:p.Ser992Cys
NP_001077074.1:p.Ser992Cys
NP_001077075.1:p.Ser992Cys
NP_001077076.1:p.Ser992Cys
NP_001341847.1:p.Ser1091Cys
LRG_515t1:c.3428C>G
LRG_515t2:c.3230C>G
LRG_515:g.68467C>G
LRG_515p1:p.Ser1143Cys
LRG_515p2:p.Ser1077Cys
NC_000009.11:g.98215781G>C
NM_000264.3:c.3428C>G
NM_001083602.1:c.3230C>G
NR_149061.2:n.4167C>G

Protein change:

S1077C

Molecular consequence:

NM_000264.5:c.3428C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083602.3:c.3230C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083603.3:c.3425C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083604.3:c.2975C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083605.3:c.2975C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083606.3:c.2975C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083607.3:c.2975C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354918.2:c.3272C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_149061.2:n.4167C>G - 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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Cerebral Cortex
Cerebral Cortex
The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulci. It reaches its highest development...<br/>Year introduced: INSULA OF REIL was see under CEREBRAL CORTEX 1968-1978

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004097926	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 3, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004097926

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 3, 2023)

germline

clinical testing

Citation Link

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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

Details of each submission

From Ambry Genetics, SCV004097926.2

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

Description

The p.S1143C variant (also known as c.3428C>G), located in coding exon 20 of the PTCH1 gene, results from a C to G substitution at nucleotide position 3428. The serine at codon 1143 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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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