NM_025215.6(PUS1):c.581_585del (p.Asn194fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 21, 2023
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:: RCV003569994.2

Allele description [Variation Report for NM_025215.6(PUS1):c.581_585del (p.Asn194fs)]

NM_025215.6(PUS1):c.581_585del (p.Asn194fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

12q24.33

Genomic location:

Preferred name:

NM_025215.6(PUS1):c.581_585del (p.Asn194fs)

HGVS:

NC_000012.12:g.131941328_131941332del
NG_013039.1:g.17129_17133del
NG_013039.2:g.17054_17058del
NM_001002019.3:c.497_501del
NM_001002020.3:c.497_501del
NM_025215.6:c.581_585delMANE SELECT
NP_001002019.1:p.Asn166fs
NP_001002020.1:p.Asn166fs
NP_079491.2:p.Asn194fs
NC_000012.11:g.132425870_132425874del
NC_000012.11:g.132425873_132425877del

Protein change:

N166fs

Molecular consequence:

NM_001002019.3:c.497_501del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001002020.3:c.497_501del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_025215.6:c.581_585del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004325446	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 21, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 17056637, 19731322, 25058219, 26556812, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004325446

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 21, 2023)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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

Citations

PubMed

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M.

J Med Genet. 2007 Mar;44(3):173-80. Epub 2006 Oct 20.

PubMed [citation]

PMID:: 17056637
PMCID:: PMC2598032

Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.

Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ.

Pediatr Blood Cancer. 2010 Feb;54(2):273-8. doi: 10.1002/pbc.22244.

PubMed [citation]

PMID:: 19731322
PMCID:: PMC2843911

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004325446.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This variant has not been reported in the literature in individuals affected with PUS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn194Metfs*2) in the PUS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PUS1 are known to be pathogenic (PMID: 17056637, 19731322, 25058219, 26556812). For these reasons, this variant has been classified as Pathogenic.

#	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: Sep 29, 2024

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