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NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 10, 2023
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:
RCV001756135.5

Allele description [Variation Report for NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu)]

NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu)

Genes:
RTEL1-TNFRSF6B:RTEL1-TNFRSF6B readthrough (NMD candidate) [Gene - HGNC]
RTEL1:regulator of telomere elongation helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu)
Other names:
p.Pro647Leu
HGVS:
  • NC_000020.11:g.63689563C>T
  • NG_033901.1:g.36754C>T
  • NM_001283009.2:c.1940C>TMANE SELECT
  • NM_001283010.1:c.1271C>T
  • NM_016434.4:c.1940C>T
  • NM_032957.5:c.2012C>T
  • NP_001269938.1:p.Pro647Leu
  • NP_001269939.1:p.Pro424Leu
  • NP_057518.1:p.Pro647Leu
  • NP_116575.3:p.Pro671Leu
  • NP_116575.3:p.Pro671Leu
  • LRG_1149t1:c.2012C>T
  • LRG_1149t2:c.1940C>T
  • LRG_1149t3:c.1940C>T
  • LRG_1149:g.36754C>T
  • LRG_1149p1:p.Pro671Leu
  • LRG_1149p2:p.Pro647Leu
  • LRG_1149p3:p.Pro647Leu
  • NC_000020.10:g.62320916C>T
  • NM_032957.4:c.2012C>T
  • NR_037882.1:n.2767C>T
Protein change:
P424L
Links:
dbSNP: rs1177091623
NCBI 1000 Genomes Browser:
rs1177091623
Molecular consequence:
  • NM_001283009.2:c.1940C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001283010.1:c.1271C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016434.4:c.1940C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032957.5:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037882.1:n.2767C>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
SCV001987716GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 10, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001987716.3

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

Description

Identified via exome sequencing in an individual with familial pulmonary fibrosis and shortened telomeres (Stuart et al., 2015); Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as c.1940C>T (p.Pro647Leu); This variant is associated with the following publications: (PMID: 28192371, 27540018, 35795226, 25848748)

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

Last Updated: Sep 29, 2024