NM_017849.3(TMEM127):c.570del (p.Thr191fs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely pathogenic (Last evaluated: Dec 27, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000572543.1

Allele description [Variation Report for NM_017849.3(TMEM127):c.570del (p.Thr191fs)]

NM_017849.3(TMEM127):c.570del (p.Thr191fs)

Gene:
TMEM127:transmembrane protein 127 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q11.2
Genomic location:
Preferred name:
NM_017849.3(TMEM127):c.570del (p.Thr191fs)
HGVS:
  • NC_000002.12:g.96253956del
  • NG_027695.1:g.17059del
  • NM_001193304.3:c.570del
  • NM_017849.3:c.570del
  • NP_001180233.1:p.Thr191fs
  • NP_060319.1:p.Thr191fs
  • LRG_528t1:c.570del
  • LRG_528:g.17059del
  • LRG_528p1:p.Thr191fs
  • NC_000002.11:g.96919693del
  • NC_000002.11:g.96919694del
  • NM_017849.3:c.570delC
Protein change:
T191fs
Links:
dbSNP: rs1215337884
NCBI 1000 Genomes Browser:
rs1215337884
Molecular consequence:
  • NM_001193304.3:c.570del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017849.3:c.570del - frameshift variant - [Sequence Ontology: SO:0001589]
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
SCV000675332Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Dec 27, 2016)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.

Patócs A, Lendvai NK, Butz H, Liko I, Sapi Z, Szucs N, Toth G, Grolmusz VK, Igaz P, Toth M, Rácz K.

Pathol Oncol Res. 2016 Oct;22(4):673-9. doi: 10.1007/s12253-016-0050-0. Epub 2016 Mar 9.

PubMed [citation]
PMID:
26960314

Details of each submission

From Ambry Genetics, SCV000675332.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.570delC variant, located in coding exon 3 of the TMEM127 gene, results from a deletion of one nucleotide at nucleotide position 570, causing a translational frameshift with a predicted alternate stop codon (p.T191Rfs*116). This frameshift occurs at the 3' terminus of TMEM127, is not expected to trigger nonsense-mediated mRNA decay, impacts the last 54 amino acids, and results in the elongation of the protein by 65 amino acids. The exact functional impact of these inserted amino acids is unknown at this time. An alteration resulting in the same elongation (c.572delC; p.T191RFS*116) has been previously identified in an individual with bilateral pheochromocytoma (Patócs A et al. Pathol. Oncol. Res., 2016 Oct;22:673-9). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: May 10, 2021

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