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NM_033629.6(TREX1):c.23dup (p.Pro10fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 13, 2022
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:
RCV002462846.1

Allele description [Variation Report for NM_033629.6(TREX1):c.23dup (p.Pro10fs)]

NM_033629.6(TREX1):c.23dup (p.Pro10fs)

Genes:
ATRIP:ATR interacting protein [Gene - OMIM - HGNC]
ATRIP-TREX1:ATRIP-TREX1 readthrough [Gene]
TREX1:three prime repair exonuclease 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_033629.6(TREX1):c.23dup (p.Pro10fs)
HGVS:
  • NC_000003.12:g.48466678dup
  • NG_009820.2:g.5849dup
  • NG_033100.1:g.39187dup
  • NG_041782.1:g.24969dup
  • NM_001271023.2:c.*1124dup
  • NM_007248.5:c.-8dup
  • NM_032166.4:c.*1124dup
  • NM_033629.6:c.23dupMANE SELECT
  • NM_130384.3:c.*1124dupMANE SELECT
  • NP_338599.1:p.Pro10fs
  • LRG_282t1:c.23dup
  • LRG_282:g.5849dup
  • LRG_282p1:p.Pro10fs
  • NC_000003.11:g.48508072_48508073insC
  • NC_000003.11:g.48508077dup
  • NM_033629.2:c.23dup
  • NM_033629.4:c.23dup
  • NR_153405.1:n.3332dup
Protein change:
P10fs
Links:
dbSNP: rs781731683
NCBI 1000 Genomes Browser:
rs781731683
Molecular consequence:
  • NM_001271023.2:c.*1124dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_032166.4:c.*1124dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130384.3:c.*1124dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007248.5:c.-8dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_033629.6:c.23dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_153405.1:n.3332dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002757319GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 13, 2022) 		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, SCV002757319.1

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

Description

Frameshift variant predicted to result in protein truncation, as the last 305 amino acids are replaced with 91 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Aug 5, 2023