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NM_012452.2(TNFRSF13B):c.49del (p.Gln17fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 31, 2018
Accession:
VCV000538707.2
Variation ID:
538707
Description:
1bp deletion
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NM_012452.2(TNFRSF13B):c.49del (p.Gln17fs)

Allele ID
530604
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 16972027 (GRCh38) GRCh38 UCSC
17: 16875341 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.16875342del
NC_000017.11:g.16972028del
NM_012452.2:c.49del NP_036584.1:p.Gln17fs frameshift
... more HGVS
Protein change
Q17fs
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658798719
dbSNP: rs1555550717
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 31, 2018 RCV000648133.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TNFRSF13B - - GRCh38
GRCh37
94 194

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Common variable immunodeficiency 2
Allele origin: germline
Invitae
Accession: SCV000769947.2
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Gln17Argfs*15) in the TNFRSF13B gene. It is expected to result in an absent or disrupted protein ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019