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NM_000264.5(PTCH1):c.1729-11del AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Jul 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001715584.13

Allele description [Variation Report for NM_000264.5(PTCH1):c.1729-11del]

NM_000264.5(PTCH1):c.1729-11del

Genes:
PTCH1:patched 1 [Gene - OMIM - HGNC]
LOC100507346:uncharacterized LOC100507346 [Gene]
Variant type:
Deletion
Cytogenetic location:
9q22.32
Genomic location:
Preferred name:
NM_000264.5(PTCH1):c.1729-11del
HGVS:
  • NC_000009.12:g.95469949del
  • NG_007664.1:g.52024del
  • NM_000264.5:c.1729-11delMANE SELECT
  • NM_001083602.3:c.1531-11del
  • NM_001083603.3:c.1726-11del
  • NM_001083604.3:c.1276-11del
  • NM_001083605.3:c.1276-11del
  • NM_001083606.3:c.1276-11del
  • NM_001083607.3:c.1276-11del
  • NM_001354918.2:c.1573-11del
  • LRG_515t1:c.1729-11del
  • LRG_515:g.52024del
  • NC_000009.11:g.98232224del
  • NC_000009.11:g.98232231del
  • NM_000264.3:c.1729-11delT
  • NM_000264.4:c.1729-11delT
  • NR_038982.1:n.1887del
Links:
dbSNP: rs779000277
NCBI 1000 Genomes Browser:
rs779000277
Molecular consequence:
  • NM_000264.5:c.1729-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083602.3:c.1531-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083603.3:c.1726-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083604.3:c.1276-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083605.3:c.1276-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083606.3:c.1276-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083607.3:c.1276-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354918.2:c.1573-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_038982.1:n.1887del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
7

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001942754GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Mar 3, 2015) 		germlineclinical testing

Citation Link,

SCV004032861CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Jul 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes7not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001942754.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004032861.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testingnot provided

Description

PTCH1: BS1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided7not providednot providednot provided

Last Updated: Oct 20, 2024