NM_138459.5(NUS1):c.25_26del (p.Trp9fs) AND not provided

Germline classification:: Pathogenic (1 submission)
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:: RCV002251793.1

Allele description [Variation Report for NM_138459.5(NUS1):c.25_26del (p.Trp9fs)]

NM_138459.5(NUS1):c.25_26del (p.Trp9fs)

Gene:

NUS1:NUS1 dehydrodolichyl diphosphate synthase subunit [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

6q22.1

Genomic location:

Preferred name:

NM_138459.5(NUS1):c.25_26del (p.Trp9fs)

HGVS:

NC_000006.12:g.117675693TG[1]
NG_054913.2:g.5240TG[1]
NM_138459.5:c.25_26delMANE SELECT
NP_612468.1:p.Trp9fs
NC_000006.11:g.117996856TG[1]
NM_138459.4:c.25_26del

Protein change:

W9fs

Links:

dbSNP: rs2114674305

NCBI 1000 Genomes Browser:

rs2114674305

Molecular consequence:

NM_138459.5:c.25_26del - 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
SCV002522463	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002522463

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

no assertion criteria provided

Pathogenic

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV002522463.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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