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NM_015450.3(POT1):c.349C>T (p.Arg117Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 17, 2020
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:
RCV001755900.3

Allele description [Variation Report for NM_015450.3(POT1):c.349C>T (p.Arg117Cys)]

NM_015450.3(POT1):c.349C>T (p.Arg117Cys)

Gene:
POT1:protection of telomeres 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.33
Genomic location:
Preferred name:
NM_015450.3(POT1):c.349C>T (p.Arg117Cys)
HGVS:
  • NC_000007.14:g.124863547G>A
  • NG_029232.1:g.71437C>T
  • NM_001042594.2:c.-45C>T
  • NM_015450.3:c.349C>TMANE SELECT
  • NP_056265.2:p.Arg117Cys
  • NC_000007.13:g.124503601G>A
  • NM_015450.2:c.349C>T
  • NR_003102.2:n.792C>T
  • NR_003103.2:n.792C>T
  • NR_003104.2:n.792C>T
Protein change:
R117C
Links:
dbSNP: rs780936436
NCBI 1000 Genomes Browser:
rs780936436
Molecular consequence:
  • NM_001042594.2:c.-45C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_015450.3:c.349C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003102.2:n.792C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_003103.2:n.792C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_003104.2:n.792C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001987709GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 17, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001987709.2

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

Description

Identified in Spanish families with angiosarcoma and other cancers (Calvete 2015); Published functional studies demonstrate reduced recruitment of POT1 protein to telomeres and increased DNA damage markers, but no impact on telomerase activity in patient cells (Calvete 2015, Calvete 2019); Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26403419, 28853721, 32033110, 28389767, 31510873)

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

Last Updated: Sep 29, 2024