About PTCH1
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
PTCH1 c.4033C>G, p.(Arg1345Gly)
Classification
Uncertain significance
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is uncertain. Select a step to read what it means.
Uncertain.The recorded classification is uncertain significance.
In plain language
Gene-level background from the recorded interpretation.
Words with a dotted underline have a short definition. Hover or tap them.
LYFE Sciences is an AI system, and it can make mistakes.
Criteria may be applied incorrectly, sources may be misread, and a
confident-looking classification can still be wrong.
Double-check every criterion and its underlying evidence
before relying on any call.
01The reasoning
How it was classified
The recorded framework is Not recorded. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.
Recorded applied criteria
The applied criteria and their strengths are shown as assessed under the stated framework.
Pathogenic evidence criteria: 1
Benign evidence criteria: 1
Pathogenic criteria applied · 1
PM2Supporting
PM2 · supporting
This variant is present at extremely low frequency in population databases: gnomAD v2.1 AF = 0.00081% (2/246054 alleles, no homozygotes), gnomAD v4.1 AF = 0.00025% (4/1611580 alleles, no homozygotes). Both allele frequencies are below the ClinGen SVI PM2_Supporting threshold of ≤0.002%. Absent from gnomAD-Canada v1.0.
Benign criteria applied · 1
BP6Supporting
BP6 · supporting
ClinVar contains a Benign classification from Labcorp Genetics (formerly Invitae), a reputable clinical diagnostic laboratory, submitted with criteria provided (SCV001497416; review status: criteria provided, single submitter). A second submitter (Ambry Genetics) classifies the variant as Uncertain significance. While not unanimous, the Benign classification from a major clinical laboratory supports a benign interpretation.
Recorded classification: Uncertain significance
gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: PM2 supporting, BP6 supporting; combination = 1 supporting + 1 supporting benign, which maps to VUS.
02The sources
Evidence at a glance
Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.
gnomAD v4.1
gnomAD v2.1
Population frequency
4 / 1,611,580 alleles
gnomAD v4.1: 4 / 1,611,580 alleles. Recorded AF 2.48204e-06. Recorded homozygote count 0.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 8.1283e-06; MAF= 0.00081%, 2/246054 alleles, homozygotes = 0) and has highest observed frequency in the South Asian population (AF= 6.54279e-05; MAF= 0.00654%, 2/30568 alleles, homozygotes = 0); grpmax FAF= 1.083e-05.
SpliceAI score
0.000 maximum delta
Recorded SpliceAI maximum delta score: 0.000. Refer to the recorded PP3/BP4 rationale for interpretation.
No listed criterion applied
SpliceAI ↗
ClinVar submissions
2 reported laboratory submissions
1 Benign · 1 Uncertain significance.
Functional evidence
Statement recorded
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. PTCH1, a tumor suppressor and inhibitor of the hedgehog pathway, is recurrently mutated in basal cell carcinoma.
No listed criterion applied
OncoKB ↗
COSMIC
Cancer Hotspots
Somatic evidence
3 recorded samples
This variant has previously been reported in somatic cancers (COSMIC; COSV59465944, n = 3 times).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under Not recorded, with the data and sources behind each one.
26 criteria with recorded statuses: 2 met · 18 not met · 2 not assessed · 4 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
NM_000264.5:c.4033C>G (p.Arg1345Gly) is a missense variant in PTCH1, a gene in which loss-of-function variants cause Gorlin syndrome (nevoid basal cell carcinoma syndrome) via an autosomal dominant haploinsufficiency mechanism.
This variant is present at extremely low frequency in gnomAD v2.1 (AF=0.00081%, 2/246054 alleles) and gnomAD v4.1 (AF=0.00025%, 4/1611580 alleles), meeting PM2_Supporting (ClinGen SVI threshold ≤0.002%).
Computational predictors are uninformative or weakly benign: BayesDel score is -0.078 (benign range), SpliceAI delta is 0.00, and REVEL is not available. This does not meet thresholds for PP3 or BP4.
In ClinVar, Labcorp Genetics (formerly Invitae) has classified this variant as Benign (SCV001497416, criteria provided), while Ambry Genetics has classified it as Uncertain significance (SCV002619761). The Benign classification from a reputable clinical laboratory supports BP6_Supporting.
No functional studies, segregation data, de novo reports, case-control data, or variant-specific publications were identified for this variant. PVS1, PS1-PS5, PM1, PM5, PM6, PP1-PP5, and the benign criteria BA1, BS1-BS4, BP1-BP2, BP4-BP5, BP7 are either not met or not applicable.
The evidence profile yields one supporting pathogenic criterion (PM2_Supporting) and one supporting benign criterion (BP6_Supporting). Per generic ACMG/AMP 2015 combination rules (PMID:25741868), conflicting evidence with equal weight on both sides results in a classification of Variant of Uncertain Significance (VUS).
No criteria match.
Met · 2
PM2 SupportingThis variant is present at extremely low frequency in population databases: gnomAD v2.1 AF = 0.00081% (2/246054 alleles, no homozygotes), gnomAD v4.1 AF = 0.00025% (4/1611580 alleles, no homozygotes). Both allele frequencies are below the ClinGen SVI PM2_Supporting threshold of ≤0.002%. Absent from gnomAD-Canada v1.0. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: 2/246054 alleles
- AF=8.13e-6
- grpmax FAF=1.08e-5.
- gnomAD v4.1: 4/1611580 alleles
- AF=2.48e-6
- grpmax FAF=1.43e-5.
- gnomAD-Canada: absent.
Sources
BP6 SupportingClinVar contains a Benign classification from Labcorp Genetics (formerly Invitae), a reputable clinical diagnostic laboratory, submitted with criteria provided (SCV001497416; review status: criteria provided, single submitter). A second submitter (Ambry Genetics) classifies the variant as Uncertain significance. While not unanimous, the Benign classification from a major clinical laboratory supports a benign interpretation. Details ▾Hide ▴
Evidence considered
- ClinVar: Benign classification by Labcorp Genetics (SCV001497416)
- criteria provided.
- ClinVar: Uncertain significance by Ambry Genetics (SCV002619761).
Still missing
- Benign classification from only one clinical laboratory
- a second laboratory calls VUS.
Sources
clinvar ↗28492532
Not met · 18 · evaluated, threshold not reached
PS1 No alternative nucleotide change at c.4033 producing the same p.Arg1345Gly amino acid change has been identified as a previously established pathogenic variant in ClinVar or the literature. Details ▾Hide ▴
Evidence considered
- No known alternative nucleotide variant yielding p.Arg1345Gly classified as pathogenic.
Still missing
- No alternative nucleotide change at this residue known to be pathogenic.
Sources
PS2 No de novo occurrence of NM_000264.5:c.4033C>G with confirmed paternity and maternity has been identified in public databases (Denovo-db, DECIPHER) or published literature. Details ▾Hide ▴
Evidence considered
- No de novo reports found in public databases or literature.
Still missing
- No de novo data available
- private de novo events cannot be excluded.
PS3 No published functional studies have tested the specific effect of p.Arg1345Gly on PTCH1 protein function or Hedgehog pathway signaling. Well-established PTCH1 functional assays exist but have not been applied to this variant. Details ▾Hide ▴
Evidence considered
- No variant-specific functional data available.
Still missing
- No functional studies have tested p.Arg1345Gly
- PTCH1 Hedgehog reporter assays are available but unused for this variant.
PS4 No case-control study demonstrates statistically significant enrichment of this variant in PTCH1-associated disease (Gorlin syndrome) cases versus controls. The variant is present at extremely low frequency in gnomAD but without accompanying phenotype-enrichment data. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: 2/246054 alleles (AF=0.00081%).
- gnomAD v4.1: 4/1611580 alleles (AF=0.00025%).
- ClinVar: 1 Benign
- 1 VUS submission
- no systematic phenotype data.
Still missing
- No published case-control or cohort enrichment analysis for this variant.
Sources
PM6 No report of this variant as a suspected de novo occurrence without confirmation of paternity and maternity has been identified in public databases or published literature. Details ▾Hide ▴
Evidence considered
- No assumed de novo reports found.
Still missing
- No de novo data of any kind available for this variant.
PP1 No published cosegregation data exist for NM_000264.5:c.4033C>G with Gorlin syndrome or any other PTCH1-associated phenotype in multiple affected family members. Details ▾Hide ▴
Evidence considered
- No cosegregation data available.
Still missing
- No family studies with this variant have been published.
PP3 Computational evidence does not support a deleterious effect. The BayesDel score is -0.078 (benign range). REVEL score is not available for this variant. SpliceAI max delta is 0.00 (no splice impact predicted). Multiple lines of in silico evidence do not converge on a damaging prediction. Details ▾Hide ▴
Evidence considered
- BayesDel: -0.078 (benign range).
- SpliceAI max delta: 0.00.
- REVEL: not available.
Still missing
- REVEL score unavailable.
Sources
bayesdelspliceai ↗
PP4 No proband phenotype or family history information is available in the case materials to assess whether the presentation is highly specific for PTCH1-associated Gorlin syndrome. Details ▾Hide ▴
Evidence considered
- No patient phenotype data available.
Still missing
- No proband phenotype or family history provided.
PP5 PP5 requires a reputable source to have recently reported the variant as pathogenic. ClinVar classification for this variant is Benign (Labcorp Genetics) and Uncertain significance (Ambry Genetics). No reputable source reports the variant as pathogenic. Details ▾Hide ▴
Evidence considered
- ClinVar: Benign (Labcorp Genetics)
- Uncertain significance (Ambry Genetics).
- No expert panel or reputable source pathogenic classification.
Sources
clinvar ↗28492532
BA1 Allele frequency in gnomAD is well below the BA1 threshold of >1% (non-VCEP generic cutoff). gnomAD v2.1 AF = 0.00081%; gnomAD v4.1 AF = 0.00025%. Details ▾Hide ▴
BS1 Allele frequency in gnomAD is well below the BS1 threshold of >0.3% (non-VCEP generic cutoff). gnomAD v2.1 AF = 0.00081%; gnomAD v4.1 AF = 0.00025%. Details ▾Hide ▴
BS2 Although the variant is observed in gnomAD (2-4 alleles), BS2 requires observation in a healthy adult individual for a fully penetrant dominant disorder with confirmed unaffected status. gnomAD does not provide phenotype data, and the very low allele count precludes confident application of BS2. Gorlin syndrome also has variable expressivity. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: 2 alleles.
- gnomAD v4.1: 4 alleles.
- No phenotype data for gnomAD carriers.
Still missing
- Phenotype status of gnomAD carriers unknown.
Sources
BS3 No well-established functional studies have demonstrated that p.Arg1345Gly does not alter PTCH1 protein function or Hedgehog pathway signaling. No variant-specific functional data are available. Details ▾Hide ▴
Evidence considered
- No variant-specific functional data available.
Still missing
- No functional studies have tested p.Arg1345Gly.
BS4 No pedigree or family data are available to assess non-segregation of this variant with PTCH1-associated disease. BS4 requires documented lack of segregation in an affected family member. Details ▾Hide ▴
Evidence considered
- No segregation data available.
Still missing
- No family studies available.
BP2 No observation of this variant occurring in trans with a clearly pathogenic PTCH1 variant in a patient without a more severe phenotype has been reported. Given PTCH1 is an autosomal dominant disorder gene, such an observation is rare. Details ▾Hide ▴
Evidence considered
- No cases of this variant in trans with a pathogenic PTCH1 variant identified.
Still missing
- No trans-configuration data available.
BP4 Insufficient computational evidence to meet BP4. BayesDel score of -0.078 falls in the benign range, but this represents only one meta-predictor. SpliceAI max delta of 0.00 is neutral. REVEL is unavailable. BP4 requires multiple lines of computational evidence suggesting no impact; a single borderline-benign meta-predictor score does not satisfy this threshold. Details ▾Hide ▴
Evidence considered
- BayesDel: -0.078 (benign range — single predictor).
- SpliceAI: max delta 0.00 (neutral
- not benign evidence).
- REVEL: unavailable.
Still missing
- REVEL score unavailable.
- Only one missense predictor (BayesDel) available in the benign range.
Sources
bayesdelspliceai ↗
BP5 No case has been reported where this variant is found in a patient with an alternate molecular basis for disease, which would suggest the variant is incidental. Details ▾Hide ▴
Evidence considered
- No data on alternate molecular diagnosis in carriers.
Still missing
- No case reports with alternate molecular etiology identified.
PS5 PS5 requires a reputable source to have reported the variant as pathogenic. ClinVar classifications for this variant are Benign (Labcorp Genetics) and Uncertain significance (Ambry Genetics). No reputable source has reported this variant as pathogenic. Details ▾Hide ▴
Evidence considered
- ClinVar: Benign (1 submitter)
- Uncertain significance (1 submitter). No pathogenic classification.
Sources
Not assessed · 2 · no assessment recorded
PM1 p.Arg1345 lies within the C-terminal domain (CTD, residues ~1188-1447) of PTCH1, a region implicated in Hedgehog pathway regulation. However, no formal PM1 mutational hotspot domain has been defined for PTCH1 by a ClinGen CSPEC/VCEP, and benign missense variation within this domain in population databases has not been systematically evaluated to satisfy generic PM1 requirements. Details ▾Hide ▴
Evidence considered
- Residue Arg1345 is located in the PTCH1 C-terminal domain.
Still missing
- No CSPEC-defined PM1 domain for PTCH1.
- gnomAD missense constraint metrics for the CTD not evaluated.
PP2 PTCH1 missense variants are a known mechanism of disease in Gorlin syndrome, but PP2 requires a demonstrably low rate of benign missense variation (e.g., high gnomAD missense Z-score). Without a CSPEC/VCEP framework providing gene-level PP2 qualification or direct gnomAD constraint metrics for PTCH1 in the evidence packet, PP2 cannot be reliably applied in generic ACMG mode. Details ▾Hide ▴
Evidence considered
- PTCH1 is a tumor suppressor with pathogenic missense variants described.
- No gene-level benign missense constraint data retrieved.
Still missing
- PTCH1 gnomAD missense Z-score / o/e ratio not retrieved.
Not applicable · 4· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AThis is a missense variant (c.4033C>G, p.Arg1345Gly). PVS1 is reserved for null variants (nonsense, frameshift, canonical splice ±1,2). The variant does not fall into any PVS1 null-variant bucket and SpliceAI predicts no cryptic splice impact (max delta = 0.00). Details ▾Hide ▴
Evidence considered
- Missense variant
- not a null variant.
- SpliceAI max delta 0.00 — no cryptic splice effect.
Sources
PM5 N/ANo same-residue alternate pathogenic missense candidate could be confirmed to satisfy classic PM5 comparator semantics. Automated candidate harvesting returned zero eligible comparators. Details ▾Hide ▴
Evidence considered
- No same-residue comparator variants identified in ClinVar at Arg1345 with a different pathogenic amino acid change.
Sources
pm5_candidates
BP1 N/ABP1 applies to missense variants in genes where only truncating variants cause disease. PTCH1 harbors many established pathogenic missense variants associated with Gorlin syndrome; therefore BP1 is not applicable. Details ▾Hide ▴
Evidence considered
- PTCH1 has known pathogenic missense variants in Gorlin syndrome.
BP7 N/ABP7 applies to synonymous (silent) variants with no predicted splice impact. This is a missense variant (c.4033C>G, p.Arg1345Gly), not synonymous. Details ▾Hide ▴
Evidence considered
- Missense variant
- not synonymous.
Identifiers
- Gene
- PTCH1
- Transcript
- NM_000264.5
- Coding (HGVS c.)
- NM_000264.5:c.4033C>G
- Protein (HGVS p.)
- NP_000255.2:p.(Arg1345Gly)
- GRCh38
- chr9:95447223 G>C
- GRCh37
- chr9:98209505 G>C
- ClinVar
- 1010368
- COSMIC
- COSV59465944
Gene diagram
Every interpreted variant in PTCH1, mapped onto the exon structure of NM_000264.5. Select a row to find it on the plot.
PTCH1NM_000264.5
Fetching transcript structure from UCSC…
Exons
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Transcript span
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Strand
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Variants mapped
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Source
UCSC ncbiRefSeqCurated
All variants in PTCH1
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Select a row to find it on the plot; use the link to open its page.
| Protein | Location | Classification | Link |
|---|
gnomAD v4.1
4 / 1,611,580 alleles
AF 2.48e-06 · 0 homozygotes · FAF 1.43e-05
gnomAD v2.1
2 / 246,054 alleles
AF 8.13e-06 · 0 homozygotes · FAF 1.08e-05
gnomAD-Canada v1.0
0 / 0 alleles
AF 0 · 0 homozygotes · FAF 0
By genetic ancestry
gnomAD v4.1
AF 2.5e-06 · 4 / 1,611,580 alleles · 0 hom · FAF 1.4e-05
| South Asian4 / 91,070 | 4.4e-05 |
0 alternate alleles recorded in 9 other groups: Remaining individuals, Admixed American, European (Finnish), Amish, East Asian, Middle Eastern, Ashkenazi Jewish, African/African American, European (non-Finnish).
gnomAD v2.1
AF 8.1e-06 · 2 / 246,054 alleles · 0 hom · FAF 1.1e-05
| South Asian2 / 30,568 | 6.5e-05 |
0 alternate alleles recorded in 7 other groups: African/African American, Admixed American, Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), Remaining individuals.
gnomAD-Canada
AF 0 · 0 / 0 alleles · 0 hom
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 2.48204e-06; MAF= 0.00025%, 4/1611580 alleles, homozygotes = 0) and has highest observed frequency in the South Asian population (AF= 4.39223e-05; MAF= 0.00439%, 4/91070 alleles, homozygotes = 0); grpmax FAF= 1.425e-05.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 8.1283e-06; MAF= 0.00081%, 2/246054 alleles, homozygotes = 0) and has highest observed frequency in the South Asian population (AF= 6.54279e-05; MAF= 0.00654%, 2/30568 alleles, homozygotes = 0); grpmax FAF= 1.083e-05.
SpliceAI and Pangolin
Other predictors
- REVEL
- Not available
- BayesDel
- -0.078
How the predictions were used
PP3 Computational evidence does not support a deleterious effect. The BayesDel score is -0.078 (benign range). REVEL score is not available for this variant. SpliceAI max delta is 0.00 (no splice impact predicted). Multiple lines of in silico evidence do not converge on a damaging prediction. Details ▾Hide ▴
Evidence considered
- BayesDel: -0.078 (benign range).
- SpliceAI max delta: 0.00.
- REVEL: not available.
Still missing
- REVEL score unavailable.
Sources
bayesdelspliceai ↗
BP4 Insufficient computational evidence to meet BP4. BayesDel score of -0.078 falls in the benign range, but this represents only one meta-predictor. SpliceAI max delta of 0.00 is neutral. REVEL is unavailable. BP4 requires multiple lines of computational evidence suggesting no impact; a single borderline-benign meta-predictor score does not satisfy this threshold. Details ▾Hide ▴
Evidence considered
- BayesDel: -0.078 (benign range — single predictor).
- SpliceAI: max delta 0.00 (neutral
- not benign evidence).
- REVEL: unavailable.
Still missing
- REVEL score unavailable.
- Only one missense predictor (BayesDel) available in the benign range.
Sources
bayesdelspliceai ↗
BP7 N/ABP7 applies to synonymous (silent) variants with no predicted splice impact. This is a missense variant (c.4033C>G, p.Arg1345Gly), not synonymous. Details ▾Hide ▴
Evidence considered
- Missense variant
- not synonymous.
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). BayesDel score = -0.0783339.
8 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata. None of the listed paper records explicitly indicates that the variant is named.
Recorded publications
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PMID 15604628 ↗Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.Trepanier A et al. · 2004No paper-specific finding is recorded.
-
PMID 20301330 ↗Nevoid Basal Cell Carcinoma Syndrome.Adam MP et al. · 1993No paper-specific finding is recorded.
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PMID 21304560 ↗Clinical utility gene card for: Gorlin syndrome.Lo Muzio L et al. · 2011No paper-specific finding is recorded.
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PMID 25394175 ↗A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Hampel H et al. · 2015No paper-specific finding is recorded.
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PMID 26389210 ↗Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version.PDQ Cancer Genetics Editorial Board · 2002No paper-specific finding is recorded.
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PMID 26389258 ↗Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.PDQ Cancer Genetics Editorial Board · 2002No paper-specific finding is recorded.
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PMID 26389333 ↗Genetics of Skin Cancer (PDQ®): Health Professional Version.PDQ Cancer Genetics Editorial Board · 2002No paper-specific finding is recorded.
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PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Nykamp K et al. · 2017No paper-specific finding is recorded.
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
4 / 1,611,580 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.000
Open source ↗
ClinVar
1 Benign · 1 Uncertain significance
Open source ↗
COSMIC
Captured COSMIC source record
Open source ↗
Cancer hotspots
Captured Cancer Hotspots source record
Open source ↗
OncoKB
Captured OncoKB source record
Open source ↗
All source links
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/1010368/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/9-98209505-G-C?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr9-95447223-G-C?dataset=gnomad_r4
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000264.5%3Ac.4033…
- OncoKB ↗www.oncokb.org/gene/PTCH1/R1345G
- COSMIC ↗cancer.sanger.ac.uk/cosmic/mutation/overview?id=127880846
- Cancer hotspots ↗www.cancerhotspots.org/
Statements for reports
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 2.48204e-06; MAF= 0.00025%, 4/1611580 alleles, homozygotes = 0) and has highest observed frequency in the South Asian population (AF= 4.39223e-05; MAF= 0.00439%, 4/91070 alleles, homozygotes = 0); grpmax FAF= 1.425e-05.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 8.1283e-06; MAF= 0.00081%, 2/246054 alleles, homozygotes = 0) and has highest observed frequency in the South Asian population (AF= 6.54279e-05; MAF= 0.00654%, 2/30568 alleles, homozygotes = 0); grpmax FAF= 1.083e-05.
ClinVar
This variant has been reported in ClinVar as Benign (1 clinical laboratory) and as Uncertain significance (1 clinical laboratory). (ClinVarID = 1010368)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). BayesDel score = -0.0783339.
Functional
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. PTCH1, a tumor suppressor and inhibitor of the hedgehog pathway, is recurrently mutated in basal cell carcinoma.
Somatic
This variant does not lie in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV59465944, n = 3 times).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.