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NM_033629.6(TREX1):c.558_573dup (p.Pro192fs) AND Chilblain lupus 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 1, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004767683.1

Allele description [Variation Report for NM_033629.6(TREX1):c.558_573dup (p.Pro192fs)]

NM_033629.6(TREX1):c.558_573dup (p.Pro192fs)

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.558_573dup (p.Pro192fs)
HGVS:
  • NC_000003.12:g.48467213_48467228dup
  • NG_009820.2:g.6384_6399dup
  • NG_033100.1:g.38636_38651dup
  • NG_033100.2:g.42585_42600dup
  • NG_041782.1:g.25504_25519dup
  • NG_099340.1:g.274_289dup
  • NM_001271022.2:c.*1659_*1674dup
  • NM_001271023.2:c.*1659_*1674dup
  • NM_007248.5:c.528_543dup
  • NM_032166.4:c.*1659_*1674dup
  • NM_033629.6:c.558_573dupMANE SELECT
  • NM_130384.3:c.*1659_*1674dupMANE SELECT
  • NP_009179.2:p.Pro182fs
  • NP_338599.1:p.Pro192Valfs
  • NP_338599.1:p.Pro192fs
  • LRG_282t1:c.558_573dup
  • LRG_282:g.6384_6399dup
  • LRG_282p1:p.Pro192fs
  • NC_000003.11:g.48508612_48508627dup
  • NM_033629.4:c.558_573dup
  • NR_153405.1:n.3867_3882dup
Protein change:
P182fs
Molecular consequence:
  • NM_001271022.2:c.*1659_*1674dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001271023.2:c.*1659_*1674dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_032166.4:c.*1659_*1674dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130384.3:c.*1659_*1674dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007248.5:c.528_543dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033629.6:c.558_573dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_153405.1:n.3867_3882dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Chilblain lupus 1 (CHBL1)
Identifiers:
MONDO: MONDO:0012500; MedGen: C0024145; OMIM: 610448

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005199998Solve-RD Consortium
no assertion criteria provided
Likely pathogenic
(Jun 1, 2022) 		inheritedprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From Solve-RD Consortium, SCV005199998.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided

Description

Variant confirmed as disease-causing by referring clinical team

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

Last Updated: Oct 26, 2024