NM_000264.5(PTCH1):c.742C>G (p.Leu248Val) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 21, 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:: RCV004073153.1

Allele description [Variation Report for NM_000264.5(PTCH1):c.742C>G (p.Leu248Val)]

NM_000264.5(PTCH1):c.742C>G (p.Leu248Val)

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.742C>G (p.Leu248Val)

HGVS:

NC_000009.12:g.95481953G>C
NG_007664.1:g.40013C>G
NM_000264.5:c.742C>GMANE SELECT
NM_001083602.3:c.544C>G
NM_001083603.3:c.739C>G
NM_001083604.3:c.289C>G
NM_001083605.3:c.289C>G
NM_001083606.3:c.289C>G
NM_001083607.3:c.289C>G
NM_001354918.2:c.742C>G
NM_001354919.2:c.544C>G
NP_000255.2:p.Leu248Val
NP_000255.2:p.Leu248Val
NP_001077071.1:p.Leu182Val
NP_001077071.1:p.Leu182Val
NP_001077072.1:p.Leu247Val
NP_001077073.1:p.Leu97Val
NP_001077074.1:p.Leu97Val
NP_001077075.1:p.Leu97Val
NP_001077076.1:p.Leu97Val
NP_001341847.1:p.Leu248Val
NP_001341848.1:p.Leu182Val
LRG_515t1:c.742C>G
LRG_515t2:c.544C>G
LRG_515:g.40013C>G
LRG_515p1:p.Leu248Val
LRG_515p2:p.Leu182Val
NC_000009.11:g.98244235G>C
NM_000264.3:c.742C>G
NM_001083602.1:c.544C>G
NR_149061.2:n.1647C>G

Protein change:

L182V

Molecular consequence:

NM_000264.5:c.742C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083602.3:c.544C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083603.3:c.739C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083604.3:c.289C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083605.3:c.289C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083606.3:c.289C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001083607.3:c.289C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354918.2:c.742C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354919.2:c.544C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_149061.2:n.1647C>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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putative E3 ubiquitin-protein ligase UNKL isoform 5 [Homo sapiens]
putative E3 ubiquitin-protein ligase UNKL isoform 5 [Homo sapiens]
gi|448824846|ref|NP_001263343.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005034257	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005034257

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 21, 2023)

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, SCV005034257.1

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

Description

The p.L248V variant (also known as c.742C>G), located in coding exon 5 of the PTCH1 gene, results from a C to G substitution at nucleotide position 742. The leucine at codon 248 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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: Sep 29, 2024

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