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

CA9871628

2147602 (ClinVar)

Gene: ADA

Condition: adenosine deaminase deficiency

Inheritance Mode: Autosomal recessive inheritance

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

• Met criteria codes: PM2_Supporting

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

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.

Met criteria codes

• 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).