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NM_000264.5(PTCH1):c.2304C>T (p.Thr768=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000135878.7
Variation ID:
135878
Description:
single nucleotide variant
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NM_000264.5(PTCH1):c.2304C>T (p.Thr768=)

Allele ID
139590
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q22.32
Genomic location
9: 95467372 (GRCh38) GRCh38 UCSC
9: 98229654 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_515:g.54594C>T
LRG_515t1:c.2304C>T
NC_000009.11:g.98229654G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:95467371:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00078
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Exome Aggregation Consortium (ExAC) 0.00041
The Genome Aggregation Database (gnomAD), exomes 0.00053
The Genome Aggregation Database (gnomAD) 0.00086
Trans-Omics for Precision Medicine (TOPMed) 0.00130
The Genome Aggregation Database (gnomAD) 0.00051
1000 Genomes Project 0.00020
Links
ClinGen: CA332488
dbSNP: rs1805156
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 6, 2020 RCV000123009.13
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 11, 2015 RCV000244812.3
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000280249.2
Likely benign 1 criteria provided, single submitter Aug 19, 2015 RCV000492154.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PTCH1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2175 2625
LOC100507346 - - - GRCh38 - 427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000303338.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Apr 11, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000514298.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Holoprosencephaly 7
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000481300.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Gorlin syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000481301.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Gorlin syndrome
Allele origin: germline
Invitae
Accession: SCV000166304.11
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Aug 19, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000581045.4
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1805156...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021