NM_033629.6(TREX1):c.504C>G (p.Pro168=) AND multiple conditions

Clinical significance:Benign (Last evaluated: Mar 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001516455.1

Allele description [Variation Report for NM_033629.6(TREX1):c.504C>G (p.Pro168=)]

NM_033629.6(TREX1):c.504C>G (p.Pro168=)

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:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_033629.6(TREX1):c.504C>G (p.Pro168=)
HGVS:
  • NC_000003.12:g.48467159C>G
  • NG_009820.2:g.6330C>G
  • NG_033100.1:g.38702G>C
  • NG_041782.1:g.25450C>G
  • NM_001271022.2:c.*1605C>G
  • NM_001271023.2:c.*1605C>G
  • NM_007248.5:c.474C>G
  • NM_032166.4:c.*1605C>G
  • NM_033629.6:c.504C>GMANE SELECT
  • NM_130384.3:c.*1605C>GMANE SELECT
  • NP_009179.2:p.Pro158=
  • NP_338599.1:p.Pro168=
  • LRG_282t1:c.504C>G
  • LRG_282:g.6330C>G
  • LRG_282p1:p.Pro168=
  • NC_000003.11:g.48508558C>G
  • NR_153405.1:n.3813C>G
Molecular consequence:
  • NM_001271022.2:c.*1605C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001271023.2:c.*1605C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_032166.4:c.*1605C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130384.3:c.*1605C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_153405.1:n.3813C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_007248.5:c.474C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033629.6:c.504C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Aicardi Goutieres syndrome 1 (AGS1)
Synonyms:
CREE ENCEPHALITIS; ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS; PSEUDOTOXOPLASMOSIS SYNDROME
Identifiers:
MONDO: MONDO:0009165; MedGen: C0796126; Orphanet: 51; OMIM: 225750
Name:
Chilblain lupus 1 (CHBL1)
Synonyms:
Sarcoidosis, lupus pernio type
Identifiers:
MONDO: MONDO:0012500; MedGen: C0024145; OMIM: 610448
Name:
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS)
Synonyms:
Vasculopathy, retinal, with cerebral leukodystrophy; Cerebroretinal vasculopathy, hereditary; Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
Identifiers:
MONDO: MONDO:0008641; MedGen: C1860518; Orphanet: 3421; Orphanet: 63261; Orphanet: 71291; OMIM: 192315

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001724736Invitaecriteria provided, single submitter
Benign
(Mar 3, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001724736.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 19, 2021

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