NM_000264.5(PTCH1):c.3443T>G (p.Ile1148Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 23, 2022
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:: RCV003171667.2

Allele description [Variation Report for NM_000264.5(PTCH1):c.3443T>G (p.Ile1148Ser)]

NM_000264.5(PTCH1):c.3443T>G (p.Ile1148Ser)

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.3443T>G (p.Ile1148Ser)

HGVS:

NC_000009.12:g.95453484A>C
NG_007664.1:g.68482T>G
NM_000264.5:c.3443T>GMANE SELECT
NM_001083602.3:c.3245T>G
NM_001083603.3:c.3440T>G
NM_001083604.3:c.2990T>G
NM_001083605.3:c.2990T>G
NM_001083606.3:c.2990T>G
NM_001083607.3:c.2990T>G
NM_001354918.2:c.3287T>G
NP_000255.2:p.Ile1148Ser
NP_000255.2:p.Ile1148Ser
NP_001077071.1:p.Ile1082Ser
NP_001077071.1:p.Ile1082Ser
NP_001077072.1:p.Ile1147Ser
NP_001077073.1:p.Ile997Ser
NP_001077074.1:p.Ile997Ser
NP_001077075.1:p.Ile997Ser
NP_001077076.1:p.Ile997Ser
NP_001341847.1:p.Ile1096Ser
LRG_515t1:c.3443T>G
LRG_515t2:c.3245T>G
LRG_515:g.68482T>G
LRG_515p1:p.Ile1148Ser
LRG_515p2:p.Ile1082Ser
NC_000009.11:g.98215766A>C
NM_000264.3:c.3443T>G
NM_001083602.1:c.3245T>G
NR_149061.2:n.4182T>G

Protein change:

I1082S

Molecular consequence:

NM_000264.5:c.3443T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083602.3:c.3245T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083603.3:c.3440T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083604.3:c.2990T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083605.3:c.2990T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083606.3:c.2990T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083607.3:c.2990T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354918.2:c.3287T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_149061.2:n.4182T>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

Recent activity

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Xenocharax spilurus isolate d6264 16S ribosomal RNA gene, complete sequence; mit...
Xenocharax spilurus isolate d6264 16S ribosomal RNA gene, complete sequence; mitochondrial
gi|529308192|gb|JX985130.1|

Nucleotide
RecName: Full=Transmembrane protein 176B; AltName: Full=Protein LR8; AltName: Fu...
RecName: Full=Transmembrane protein 176B; AltName: Full=Protein LR8; AltName: Full=Tolerance-related and induced transcript protein
gi|81879971|sp|Q925D4.1|T176B_RAT

Protein
transcription factor MYB35-like [Cucurbita moschata]
transcription factor MYB35-like [Cucurbita moschata]
gi|1279763939|ref|XP_022934424.1|

Protein
thrS [Shigella flexneri 2a str. 301]
thrS [Shigella flexneri 2a str. 301]
Gene ID:1023405

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003859139	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 23, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003859139

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 23, 2022)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV003859139.2

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

Description

The p.I1148S variant (also known as c.3443T>G), located in coding exon 20 of the PTCH1 gene, results from a T to G substitution at nucleotide position 3443. The isoleucine at codon 1148 is replaced by serine, 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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