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NM_000264.5(PTCH1):c.2250+4A>G AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 26, 2024
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:
RCV004657847.1

Allele description [Variation Report for NM_000264.5(PTCH1):c.2250+4A>G]

NM_000264.5(PTCH1):c.2250+4A>G

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.2250+4A>G
HGVS:
  • NC_000009.12:g.95468747T>C
  • NG_007664.1:g.53219A>G
  • NM_000264.5:c.2250+4A>GMANE SELECT
  • NM_001083602.3:c.2052+4A>G
  • NM_001083603.3:c.2247+4A>G
  • NM_001083604.3:c.1797+4A>G
  • NM_001083605.3:c.1797+4A>G
  • NM_001083606.3:c.1797+4A>G
  • NM_001083607.3:c.1797+4A>G
  • NM_001354918.2:c.2094+4A>G
  • LRG_515t1:c.2250+4A>G
  • LRG_515:g.53219A>G
  • NC_000009.11:g.98231029T>C
  • NM_000264.3:c.2250+4A>G
  • NR_038982.1:n.685T>C
Molecular consequence:
  • NM_000264.5:c.2250+4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083602.3:c.2052+4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083603.3:c.2247+4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083604.3:c.1797+4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083605.3:c.1797+4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083606.3:c.1797+4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083607.3:c.1797+4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354918.2:c.2094+4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_038982.1:n.685T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005158156Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 26, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005158156.1

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

Description

The c.2250+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 14 in the PTCH1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 11, 2024