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NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Nov 19, 2021)
Last evaluated:
Aug 10, 2021
Accession:
VCV000505549.6
Variation ID:
505549
Description:
1bp deletion
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NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)

Allele ID
497336
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
20q13.12
Genomic location
20: 44624276 (GRCh38) GRCh38 UCSC
20: 43252917 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000022.2:c.532del
NC_000020.10:g.43252918del
NC_000020.11:g.44624277del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000020.11:44624275:CC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA636174167
dbSNP: rs886041796
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 5 criteria provided, multiple submitters, no conflicts Aug 10, 2021 RCV000606716.5
Likely pathogenic 1 criteria provided, single submitter May 10, 2019 RCV001194147.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ADA - - GRCh38
GRCh37
281 344

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 20, 2017)
criteria provided, single submitter
Method: clinical testing
Severe combined immunodeficiency due to ADA deficiency
Allele origin: unknown
Counsyl
Accession: SCV000794217.1
Submitted: (Jul 10, 2018)
Evidence details
Likely pathogenic
(Feb 03, 2017)
criteria provided, single submitter
Method: clinical testing
Severe combined immunodeficiency due to ADA deficiency
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000712838.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Val178X variant in ADA has not been previously reported in individuals wit h adenosine deaminase (ADA) deficiency, but was identified in 2/18938 East Asian … (more)
Likely pathogenic
(May 10, 2019)
criteria provided, single submitter
Method: clinical testing
Severe combined immunodeficiency disease
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001363447.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: ADA c.532delG (p.Val178X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Oct 31, 2020)
criteria provided, single submitter
Method: clinical testing
Severe combined immunodeficiency due to ADA deficiency
Allele origin: germline
Invitae
Accession: SCV001216454.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Val178*) in the ADA gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Aug 10, 2021)
criteria provided, single submitter
Method: clinical testing
Severe combined immunodeficiency due to ADA deficiency
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001977507.1
Submitted: (Oct 12, 2021)
Evidence details
Pathogenic
(Nov 13, 2019)
no assertion criteria provided
Method: clinical testing
Severe combined immunodeficiency due to ADA deficiency
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002021894.1
Submitted: (Nov 19, 2021)
Evidence details

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
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders. Chi ZH Medicine 2018 PMID: 30290665
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. Baffelli R Journal of clinical immunology 2015 PMID: 26376800
Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. Adams SP Clinical immunology (Orlando, Fla.) 2015 PMID: 26255240

Text-mined citations for rs886041796...

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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 Nov 28, 2021