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NM_000264.5(PTCH1):c.2541C>G (p.Tyr847Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 7, 2017
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:
RCV000523820.1

Allele description [Variation Report for NM_000264.5(PTCH1):c.2541C>G (p.Tyr847Ter)]

NM_000264.5(PTCH1):c.2541C>G (p.Tyr847Ter)

Genes:
PTCH1:patched 1 [Gene - OMIM - HGNC]
LOC100507346:uncharacterized LOC100507346 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000264.5(PTCH1):c.2541C>G (p.Tyr847Ter)
HGVS:
  • NC_000009.12:g.95467135G>C
  • NG_007664.1:g.54831C>G
  • NM_000264.5:c.2541C>GMANE SELECT
  • NM_001083602.3:c.2343C>G
  • NM_001083603.3:c.2538C>G
  • NM_001083604.3:c.2088C>G
  • NM_001083605.3:c.2088C>G
  • NM_001083606.3:c.2088C>G
  • NM_001083607.3:c.2088C>G
  • NM_001354918.2:c.2385C>G
  • NP_000255.2:p.Tyr847Ter
  • NP_001077071.1:p.Tyr781Ter
  • NP_001077072.1:p.Tyr846Ter
  • NP_001077073.1:p.Tyr696Ter
  • NP_001077074.1:p.Tyr696Ter
  • NP_001077075.1:p.Tyr696Ter
  • NP_001077076.1:p.Tyr696Ter
  • NP_001341847.1:p.Tyr795Ter
  • LRG_515t1:c.2541C>G
  • LRG_515:g.54831C>G
  • NC_000009.11:g.98229417G>C
  • NM_000264.3:c.2541C>G
  • NR_038982.1:n.396G>C
  • NR_149061.2:n.3280C>G
Protein change:
Y696*
Links:
dbSNP: rs863224347
NCBI 1000 Genomes Browser:
rs863224347
Molecular consequence:
  • NR_038982.1:n.396G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149061.2:n.3280C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000264.5:c.2541C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001083602.3:c.2343C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001083603.3:c.2538C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001083604.3:c.2088C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001083605.3:c.2088C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001083606.3:c.2088C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001083607.3:c.2088C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354918.2:c.2385C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000619164GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 7, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000619164.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Y847X nonsense variant in the PTCH1 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y847X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on currently available evidence, we consider Y847X to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 17, 2022