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NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 30, 2021
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:
RCV000764510.4

Allele description [Variation Report for NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)]

NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)

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.923C>G (p.Ser308Cys)
HGVS:
  • NC_000003.12:g.48467578C>G
  • NG_009820.2:g.6749C>G
  • NG_033100.1:g.38283G>C
  • NG_041782.1:g.25869C>G
  • NM_001271023.2:c.*2024C>G
  • NM_007248.5:c.893C>G
  • NM_032166.4:c.*2024C>G
  • NM_033629.6:c.923C>GMANE SELECT
  • NM_130384.3:c.*2024C>GMANE SELECT
  • NP_009179.2:p.Ser298Cys
  • NP_338599.1:p.Ser308Cys
  • LRG_282t1:c.923C>G
  • LRG_282:g.6749C>G
  • LRG_282p1:p.Ser308Cys
  • NC_000003.11:g.48508977C>G
  • NM_033629.4:c.923C>G
  • NR_153405.1:n.4232C>G
Protein change:
S298C
Links:
dbSNP: rs769885715
NCBI 1000 Genomes Browser:
rs769885715
Molecular consequence:
  • NM_001271023.2:c.*2024C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_032166.4:c.*2024C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_130384.3:c.*2024C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_007248.5:c.893C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033629.6:c.923C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_153405.1:n.4232C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
Name:
Chilblain lupus 1 (CHBL1)
Identifiers:
MONDO: MONDO:0012500; MedGen: C0024145; OMIM: 610448
Name:
Systemic lupus erythematosus (SLE)
Identifiers:
MONDO: MONDO:0007915; MedGen: C0024141; OMIM: 152700; Human Phenotype Ontology: HP:0002725
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000895589Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 30, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot 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
PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000895589.2

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

Last Updated: Apr 15, 2024