NM_002816.5(PSMD12):c.148_149del (p.Leu50fs) AND Stankiewicz-Isidor syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 26, 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:: RCV000995616.5

Allele description [Variation Report for NM_002816.5(PSMD12):c.148_149del (p.Leu50fs)]

NM_002816.5(PSMD12):c.148_149del (p.Leu50fs)

Gene:

PSMD12:proteasome 26S subunit, non-ATPase 12 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q24.2

Genomic location:

Preferred name:

NM_002816.5(PSMD12):c.148_149del (p.Leu50fs)

HGVS:

NC_000017.11:g.67357539GA[3]
NC_000017.11:g.67357539_67357540GA[3]
NM_001316341.2:c.-36CT[3]
NM_002816.5:c.148_149delMANE SELECT
NM_174871.4:c.109-114CT[3]
NP_002807.1:p.Leu50fs
NC_000017.10:g.65353655GA[3]

Protein change:

L50fs

Links:

dbSNP: rs1598574154

NCBI 1000 Genomes Browser:

rs1598574154

Molecular consequence:

NM_001316341.2:c.-36CT[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_002816.5:c.148_149del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_174871.4:c.109-114CT[3] - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Stankiewicz-Isidor syndrome (STISS)
Identifiers:: MONDO: MONDO:0054591; MedGen: C4479599; OMIM: 617516

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001149895	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Jun 26, 2019)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001149895

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Jun 26, 2019)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001149895.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	de novo	yes	1	blood	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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