NM_033629.6(TREX1):c.830_833dup (p.Asp278fs) AND Thrombotic microangiopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 1, 2018
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:: RCV001849584.1

Allele description [Variation Report for NM_033629.6(TREX1):c.830_833dup (p.Asp278fs)]

NM_033629.6(TREX1):c.830_833dup (p.Asp278fs)

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.830_833dup (p.Asp278fs)

HGVS:

NC_000003.12:g.48467485_48467488dup
NG_009820.2:g.6656_6659dup
NG_033100.1:g.38375_38378dup
NG_033100.2:g.42324_42327dup
NG_041782.1:g.25776_25779dup
NG_099340.1:g.546_549dup
NM_001271022.2:c.*1931_*1934dup
NM_001271023.2:c.*1931_*1934dup
NM_007248.5:c.800_803dup
NM_032166.4:c.*1931_*1934dup
NM_033629.6:c.830_833dupMANE SELECT
NM_130384.3:c.*1931_*1934dupMANE SELECT
NP_009179.2:p.Asp268fs
NP_338599.1:p.Asp278Glufs
NP_338599.1:p.Asp278fs
LRG_282t1:c.830_833dup
LRG_282:g.6656_6659dup
LRG_282p1:p.Asp278fs
NC_000003.11:g.48508884_48508887dup
NM_033629.2:c.830_833dup
NM_033629.4:c.830_833dup
NR_153405.1:n.4139_4142dup

Protein change:

D268fs

Links:

dbSNP: rs2107265602

NCBI 1000 Genomes Browser:

rs2107265602

Molecular consequence:

NM_001271022.2:c.*1931_*1934dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001271023.2:c.*1931_*1934dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_032166.4:c.*1931_*1934dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_130384.3:c.*1931_*1934dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_007248.5:c.800_803dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033629.6:c.830_833dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_153405.1:n.4139_4142dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Thrombotic microangiopathy
Identifiers:: MONDO: MONDO:0019737; MeSH: D057049; MedGen: C2717961

Recent activity

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RNA helicase [Caenorhabditis elegans]
RNA helicase [Caenorhabditis elegans]
gi|25148203|ref|NP_740966.1|

Protein
Histone-lysine N-methyltransferase, H3 lysine-79 specific [Caenorhabditis elegan...
Histone-lysine N-methyltransferase, H3 lysine-79 specific [Caenorhabditis elegans]
gi|71994293|ref|NP_740808.2|

Protein
Caenorhabditis elegans Plasma membrane proteolipid 3 (T23B3.2), mRNA
Caenorhabditis elegans Plasma membrane proteolipid 3 (T23B3.2), mRNA
gi|1734317588|ref|NM_059521.6|

Nucleotide
Neuropeptide-Like Protein [Caenorhabditis elegans]
Neuropeptide-Like Protein [Caenorhabditis elegans]
gi|17551036|ref|NP_509015.1|

Protein
Pseudomonas sp. 8D45 16S ribosomal RNA gene, partial sequence
Pseudomonas sp. 8D45 16S ribosomal RNA gene, partial sequence
gi|298497554|gb|GU932964.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002106418	Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics	no assertion criteria provided	Likely pathogenic (Dec 1, 2018)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002106418

Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics

no assertion criteria provided

Likely pathogenic
(Dec 1, 2018)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation.

Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK.

Am J Kidney Dis. 2018 Dec;72(6):895-899. doi: 10.1053/j.ajkd.2018.05.006. Epub 2018 Jun 22. Review.

PubMed [citation]

PMID:: 29941221

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106418.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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