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NM_015909.4(NBAS):c.2950del (p.Ile984fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 23, 2020
Accession:
VCV000501319.6
Variation ID:
501319
Description:
1bp deletion
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NM_015909.4(NBAS):c.2950del (p.Ile984fs)

Allele ID
492743
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
2p24.3
Genomic location
2: 15402289 (GRCh38) GRCh38 UCSC
2: 15542413 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.15542418del
NC_000002.12:g.15402294del
NM_015909.4:c.2950del MANE Select NP_056993.2:p.Ile984fs frameshift
... more HGVS
Protein change
I984fs
Other names
-
Canonical SPDI
NC_000002.12:15402288:TTTTTT:TTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA1536205
dbSNP: rs776797592
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Oct 23, 2020 RCV000596241.5
Pathogenic 1 criteria provided, single submitter Sep 1, 2017 RCV000602655.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NBAS - - GRCh38
GRCh37
323 350

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 26, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000707635.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Sep 01, 2017)
criteria provided, single submitter
Method: clinical testing
Infantile liver failure
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000712173.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Ile984LeufsX8 variant in NBAS has not been reported in individuals with di sease and has been identified in 9/120,878 of chromosomes by the Exome … (more)
Likely pathogenic
(Dec 20, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001168056.1
Submitted: (Oct 15, 2019)
Evidence details
Comment:
The c.2950delA variant in the NBAS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The … (more)
Pathogenic
(Oct 23, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
(Autosomal recessive inheritance)
Allele origin: germline
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447378.1
Submitted: (Oct 23, 2020)
Evidence details
Pathogenic
(Feb 08, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001235901.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Ile984Leufs*8) in the NBAS gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. Staufner C Journal of inherited metabolic disease 2016 PMID: 26541327
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. Haack TB American journal of human genetics 2015 PMID: 26073778
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=NBAS - - - -

Text-mined citations for rs776797592...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021