NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Sep 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001015005.1

Allele description [Variation Report for NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser)]

NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser)

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.2270T>C (p.Phe757Ser)
HGVS:
  • NC_000009.12:g.95467406A>G
  • NG_007664.1:g.54560T>C
  • NM_000264.5:c.2270T>CMANE SELECT
  • NM_001083602.2:c.2072T>C
  • NM_001083603.2:c.2267T>C
  • NM_001083604.2:c.1817T>C
  • NM_001083605.2:c.1817T>C
  • NM_001083606.3:c.1817T>C
  • NM_001083607.2:c.1817T>C
  • NM_001354918.2:c.2114T>C
  • NP_000255.2:p.Phe757Ser
  • NP_001077071.1:p.Phe691Ser
  • NP_001077072.1:p.Phe756Ser
  • NP_001077073.1:p.Phe606Ser
  • NP_001077074.1:p.Phe606Ser
  • NP_001077075.1:p.Phe606Ser
  • NP_001077076.1:p.Phe606Ser
  • NP_001341847.1:p.Phe705Ser
  • LRG_515t1:c.2270T>C
  • LRG_515:g.54560T>C
  • NC_000009.11:g.98229688A>G
  • NM_000264.3:c.2270T>C
  • NR_038982.1:n.556A>G
Protein change:
F606S
Links:
dbSNP: rs547954117
NCBI 1000 Genomes Browser:
rs547954117
Molecular consequence:
  • NM_000264.5:c.2270T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083602.2:c.2072T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083603.2:c.2267T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083604.2:c.1817T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083605.2:c.1817T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083606.3:c.1817T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001083607.2:c.1817T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354918.2:c.2114T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038982.1:n.556A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001175788Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Sep 7, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001175788.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.F757S variant (also known as c.2270T>C), located in coding exon 15 of the PTCH1 gene, results from a T to C substitution at nucleotide position 2270. The phenylalanine at codon 757 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 6, 2021

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