NM_025215.6(PUS1):c.545-7C>T AND Myopathy, lactic acidosis, and sideroblastic anemia

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 10, 2019
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:: RCV001833522.9

Allele description [Variation Report for NM_025215.6(PUS1):c.545-7C>T]

NM_025215.6(PUS1):c.545-7C>T

Gene:

PUS1:pseudouridine synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.33

Genomic location:

Preferred name:

NM_025215.6(PUS1):c.545-7C>T

HGVS:

NC_000012.12:g.131941285C>T
NG_013039.1:g.17086C>T
NM_001002019.3:c.461-7C>T
NM_001002020.3:c.461-7C>T
NM_025215.6:c.545-7C>TMANE SELECT
NC_000012.11:g.132425830C>T
NM_025215.5:c.545-7C>T

Links:

dbSNP: rs201541270

NCBI 1000 Genomes Browser:

rs201541270

Molecular consequence:

NM_001002019.3:c.461-7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001002020.3:c.461-7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_025215.6:c.545-7C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Myopathy, lactic acidosis, and sideroblastic anemia
Synonyms:: Mitochondrial myopathy and sideroblastic anemia; Myopathy with lactic acidosis and sideroblastic anemia
Identifiers:: MONDO: MONDO:0000863; MedGen: C1838103; Orphanet: 2598; OMIM: PS600462

Recent activity

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CLEC17A [Phocoena sinus]
CLEC17A [Phocoena sinus]
Gene ID:116751668

Gene
txid7955[organism] AND (tsn[gene symbol] OR (BC096804 OR BC096804... (57)
txid7955[organism] AND (tsn[gene symbol] OR (BC096804 OR BC096804.* OR BC109403 OR BC109403.* OR BC165426 OR BC165426.* OR AI437133 OR AI437133.* OR AI444413 OR AI444413.* OR AW154725 OR AW154725.* OR AW175063 OR AW175063.* OR BG985755 OR BG985755.* OR GDQH01020128 OR GDQH01020128.* OR BC165426 OR BC165426.* OR BC109403 OR BC109403.* OR BC096804 OR BC096804.* OR NM_001025452 OR NM_001025452.*))
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002091059	Natera, Inc.	no assertion criteria provided	Benign (Dec 10, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002091059

Natera, Inc.

no assertion criteria provided

Benign
(Dec 10, 2019)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002091059.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Nov 3, 2024

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