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NM_000264.5(PTCH1):c.130G>A (p.Ala44Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 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:
RCV004657874.1

Allele description [Variation Report for NM_000264.5(PTCH1):c.130G>A (p.Ala44Thr)]

NM_000264.5(PTCH1):c.130G>A (p.Ala44Thr)

Genes:
LOC130002133:ATAC-STARR-seq lymphoblastoid silent region 20071 [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.130G>A (p.Ala44Thr)
HGVS:
  • NC_000009.12:g.95508232C>T
  • NG_007664.1:g.13734G>A
  • NG_181579.1:g.131C>T
  • NM_000264.5:c.130G>AMANE SELECT
  • NM_001083602.3:c.4-1633G>A
  • NM_001083603.3:c.199-1633G>A
  • NM_001354918.2:c.130G>A
  • NM_001354919.2:c.4-1633G>A
  • NP_000255.2:p.Ala44Thr
  • NP_000255.2:p.Ala44Thr
  • NP_001341847.1:p.Ala44Thr
  • LRG_515t1:c.130G>A
  • LRG_515:g.13734G>A
  • LRG_515p1:p.Ala44Thr
  • NC_000009.11:g.98270514C>T
  • NM_000264.3:c.130G>A
  • NR_149061.2:n.1035G>A
Protein change:
A44T
Molecular consequence:
  • NM_001083602.3:c.4-1633G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001083603.3:c.199-1633G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354919.2:c.4-1633G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000264.5:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354918.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149061.2:n.1035G>A - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005158203Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 19, 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, SCV005158203.1

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

Description

The p.A44T variant (also known as c.130G>A), located in coding exon 1 of the PTCH1 gene, results from a G to A substitution at nucleotide position 130. The alanine at codon 44 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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

Last Updated: Aug 11, 2024