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NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Aug 14, 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:
RCV000034577.3

Allele description [Variation Report for NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp)]

NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp)

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.4171C>T (p.Arg1391Trp)
HGVS:
  • NC_000009.12:g.95447085G>A
  • NG_007664.1:g.74881C>T
  • NM_000264.4:c.4171C>T
  • NM_000264.5:c.4171C>TMANE SELECT
  • NM_001083602.3:c.3973C>T
  • NM_001083603.3:c.4168C>T
  • NM_001083604.3:c.3718C>T
  • NM_001083605.3:c.3718C>T
  • NM_001083606.3:c.3718C>T
  • NM_001083607.3:c.3718C>T
  • NM_001354918.2:c.4015C>T
  • NP_000255.2:p.Arg1391Trp
  • NP_001077071.1:p.Arg1325Trp
  • NP_001077072.1:p.Arg1390Trp
  • NP_001077073.1:p.Arg1240Trp
  • NP_001077074.1:p.Arg1240Trp
  • NP_001077075.1:p.Arg1240Trp
  • NP_001077076.1:p.Arg1240Trp
  • NP_001341847.1:p.Arg1339Trp
  • LRG_515t1:c.4171C>T
  • LRG_515:g.74881C>T
  • NC_000009.11:g.98209367G>A
  • NM_000264.3:c.4171C>T
  • NR_149061.2:n.4910C>T
Protein change:
R1240W
Links:
dbSNP: rs45535032
NCBI 1000 Genomes Browser:
rs45535032
Molecular consequence:
  • NM_000264.5:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083602.3:c.3973C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083603.3:c.4168C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083604.3:c.3718C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083605.3:c.3718C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083606.3:c.3718C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083607.3:c.3718C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354918.2:c.4015C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149061.2:n.4910C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000043444Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq
no assertion criteria provided
variant of unknown significance
(Jul 13, 2012)
germlineresearch

PubMed (1)
[See all records that cite this PMID]

SCV004219249Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Likely benign
(Aug 14, 2023)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineno1not providednot provided468not providedresearch

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]
PMID:
22703879
PMCID:
PMC3397257

Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Raskin L, Guo Y, Du L, Clendenning M, Rosty C; Colon Cancer Family Registry (CCFR)., Lindor NM, Gruber SB, Buchanan DD.

Oncotarget. 2017 Nov 7;8(55):93450-93463. doi: 10.18632/oncotarget.18596.

PubMed [citation]
PMID:
29212164
PMCID:
PMC5706810
See all PubMed Citations (3)

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000043444.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See PubMed ID:22703879 for details.

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineno468not provideddiscovery1not providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219249.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024