Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000022.4(ADA):c.569G>A (p.Gly190Glu)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA9871628

2147602 (ClinVar)

Gene: ADA

Condition: adenosine deaminase deficiency

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 3aba9050-12cd-45b0-9d2e-581cfa1681c8

Approved on: 2024-05-01

Published on: 2024-05-01

HGVS expressions

NM_000022.4:c.569G>A

NM_000022.4(ADA):c.569G>A (p.Gly190Glu)

NC_000020.11:g.44624239C>T

CM000682.2:g.44624239C>T

NC_000020.10:g.43252880C>T

CM000682.1:g.43252880C>T

NC_000020.9:g.42686294C>T

NG_007385.1:g.32497G>A

ENST00000492931.6:n.660G>A

ENST00000536076.2:c.416G>A

ENST00000536532.6:c.569G>A

ENST00000537820.2:c.569G>A

ENST00000539235.6:c.219-1161G>A

ENST00000695889.1:c.219-1309G>A

ENST00000695890.1:n.2372G>A

ENST00000695891.1:c.219-1309G>A

ENST00000695927.1:c.647G>A

ENST00000695949.1:c.566G>A

ENST00000695957.1:c.*60G>A

ENST00000695991.1:c.217-1309G>A

ENST00000695992.1:c.569G>A

ENST00000695993.1:c.569G>A

ENST00000695994.1:c.569G>A

ENST00000695995.1:c.217-1161G>A

ENST00000695996.1:n.640G>A

ENST00000695997.1:n.524G>A

ENST00000696003.1:n.661G>A

ENST00000696004.1:n.661G>A

ENST00000696005.1:c.91G>A

ENST00000696006.1:c.569G>A

ENST00000696007.1:c.420G>A

ENST00000696008.1:n.1724G>A

ENST00000696009.1:n.1919G>A

ENST00000696017.1:c.566G>A

ENST00000696034.1:c.569G>A

ENST00000696035.1:n.679G>A

ENST00000696036.1:n.1259G>A

ENST00000696037.1:n.2246G>A

ENST00000696038.1:c.*315G>A

ENST00000696039.1:n.857G>A

ENST00000696058.1:c.569G>A

ENST00000696059.1:c.*514G>A

ENST00000696060.1:c.569G>A

ENST00000696061.1:c.566G>A

ENST00000696062.1:c.632G>A

ENST00000696063.1:c.644G>A

ENST00000696064.1:c.416G>A

ENST00000696065.1:c.66-1309G>A

ENST00000696074.1:n.185G>A

ENST00000696075.1:c.*539G>A

ENST00000696076.1:c.569G>A

ENST00000696077.1:c.566G>A

ENST00000696078.1:c.569G>A

ENST00000696079.1:c.569G>A

ENST00000696080.1:c.569G>A

ENST00000696081.1:n.688G>A

ENST00000696082.1:c.647G>A

ENST00000696083.1:n.1450G>A

ENST00000696084.1:n.670G>A

ENST00000696104.1:c.363-1309G>A

ENST00000696105.1:c.*110G>A

ENST00000372874.9:c.569G>A

ENST00000372874.8:c.569G>A

ENST00000372887.5:c.*263C>T

ENST00000464097.5:n.243G>A

ENST00000492931.5:n.653G>A

ENST00000536532.5:c.569G>A

ENST00000537820.1:c.569G>A

ENST00000539235.5:c.219-1161G>A

NM_000022.2:c.569G>A

NM_000022.3:c.569G>A

NM_001322050.1:c.164G>A

NM_001322051.1:c.569G>A

NR_136160.1:n.720G>A

NM_001322050.2:c.164G>A

NM_001322051.2:c.569G>A

NR_136160.2:n.661G>A

Uncertain Significance

PM2_Supporting

Evidence Links 0

Expert Panel

Severe Combined Immunodeficiency Disease VCEP

Criteria Specification Information

Criteria Specification: ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ADA Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Severe Combined Immunodeficiency Disease VCEP

NM_000022.4:c.569G>A is a missense variant predicted to cause substitution of Glycine by Glutamic Acid at amino acid 190 (p.Gly190Glu).The filtering allele frequency (the upper threshold of the 95% CI of 9/44886) of the c.569G>A variant in ADA is 0.00009929 for East Asian chromosomes by gnomAD v4, which is lower than the ClinGen SCID VCEP threshold (<0.0001742) for PM2_Supporting, and therefore meets this criterion (PM2_Supporting).There are no publications for this variant in the literature. Based on insufficient evidence, this variant may be classified as Variant of uncertain significance for autosomal recessive SCID based on ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP(specification version 1.0): PM2_supporting.

PM2_Supporting

The filtering allele frequency (the upper threshold of the 95% CI of 9/44886) of the c.569G>A variant in ADA is 0.00009929 for East Asian chromosomes by gnomAD v4, which is lower than the ClinGen SCID VCEP threshold (<0.0001742) for PM2_Supporting, and therefore meets this criterion (PM2_Supporting).

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.