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NM_007248.3(TREX1):c.1033_1050del AND Aicardi-Goutieres syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 12, 2019
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:
RCV000853385.10

Allele description [Variation Report for NM_007248.3(TREX1):c.1033_1050del]

NM_007248.3(TREX1):c.1033_1050del

Gene:
TREX1:three prime repair exonuclease 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_007248.3(TREX1):c.1033_1050del
HGVS:
  • NC_000003.12:g.48467718_48467735del
  • NG_009820.2:g.6889_6906del
  • NG_033100.1:g.38126_38143del
  • NG_033100.2:g.42075_42092del
  • NG_099340.1:g.779_796del
  • LRG_282:g.6889_6906del
  • NC_000003.11:g.48509117_48509134del
  • NM_007248.3:c.1033_1050del
Links:
dbSNP: rs1575295176
NCBI 1000 Genomes Browser:
rs1575295176
Observations:
1

Condition(s)

Name:
Aicardi-Goutieres syndrome 1
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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000996262Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 12, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV000996262.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This variant has been previously reported as a compound heterozygous change in patients with Aicardi-Goutieres syndrome (PMID: 17846997, 24300241, 25582466). It is present in the heterozygous state in the gnomAD population database at a frequency of .006% (17/276882) and thus is presumed to be rare. Based on the available evidence, the c.1033_1050del (p.Pro345_Ala350del) variant is classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024