Variant: NM_000022.4(ADA):c.575G>A (p.Ser192Asn)

CA16608444

382795 (ClinVar)

Gene: ADA

Condition: adenosine deaminase deficiency

Inheritance Mode: Autosomal recessive inheritance

UUID: 5f0e7152-8807-44b9-a176-9114617a1627

Approved on: 2024-05-01

Published on: 2024-05-01

HGVS expressions

NM_000022.4:c.575G>A
NM_000022.4(ADA):c.575G>A (p.Ser192Asn)
NC_000020.11:g.44624233C>T
CM000682.2:g.44624233C>T
NC_000020.10:g.43252874C>T
CM000682.1:g.43252874C>T
NC_000020.9:g.42686288C>T
NG_007385.1:g.32503G>A
ENST00000492931.6:n.666G>A
ENST00000536076.2:c.422G>A
ENST00000536532.6:c.575G>A
ENST00000537820.2:c.575G>A
ENST00000539235.6:c.219-1155G>A
ENST00000695889.1:c.219-1303G>A
ENST00000695890.1:n.2378G>A
ENST00000695891.1:c.219-1303G>A
ENST00000695927.1:c.653G>A
ENST00000695949.1:c.572G>A
ENST00000695957.1:c.*66G>A
ENST00000695991.1:c.217-1303G>A
ENST00000695992.1:c.575G>A
ENST00000695993.1:c.575G>A
ENST00000695994.1:c.575G>A
ENST00000695995.1:c.217-1155G>A
ENST00000695996.1:n.646G>A
ENST00000695997.1:n.530G>A
ENST00000696003.1:n.667G>A
ENST00000696004.1:n.667G>A
ENST00000696005.1:c.97G>A
ENST00000696006.1:c.575G>A
ENST00000696007.1:c.426G>A
ENST00000696008.1:n.1730G>A
ENST00000696009.1:n.1925G>A
ENST00000696017.1:c.572G>A
ENST00000696034.1:c.575G>A
ENST00000696035.1:n.685G>A
ENST00000696036.1:n.1265G>A
ENST00000696037.1:n.2252G>A
ENST00000696038.1:c.*321G>A
ENST00000696039.1:n.863G>A
ENST00000696058.1:c.575G>A
ENST00000696059.1:c.*520G>A
ENST00000696060.1:c.575G>A
ENST00000696061.1:c.572G>A
ENST00000696062.1:c.638G>A
ENST00000696063.1:c.650G>A
ENST00000696064.1:c.422G>A
ENST00000696065.1:c.66-1303G>A
ENST00000696074.1:n.191G>A
ENST00000696075.1:c.*545G>A
ENST00000696076.1:c.575G>A
ENST00000696077.1:c.572G>A
ENST00000696078.1:c.575G>A
ENST00000696079.1:c.575G>A
ENST00000696080.1:c.575G>A
ENST00000696081.1:n.694G>A
ENST00000696082.1:c.653G>A
ENST00000696083.1:n.1456G>A
ENST00000696084.1:n.676G>A
ENST00000696104.1:c.363-1303G>A
ENST00000696105.1:c.*116G>A
ENST00000372874.9:c.575G>A
ENST00000372874.8:c.575G>A
ENST00000372887.5:c.*257C>T
ENST00000464097.5:n.249G>A
ENST00000492931.5:n.659G>A
ENST00000536532.5:c.575G>A
ENST00000537820.1:c.575G>A
ENST00000539235.5:c.219-1155G>A
NM_000022.2:c.575G>A
NM_000022.3:c.575G>A
NM_001322050.1:c.170G>A
NM_001322051.1:c.575G>A
NR_136160.1:n.726G>A
NM_001322050.2:c.170G>A
NM_001322051.2:c.575G>A
NR_136160.2:n.667G>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(ADA):c.575G>A is a missense variant predicted to cause substitution of Serine by Asparagine at amino acid 192 (p.Ser192Asn). The variant is absent in gnomAD v4 (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 variant is absent in gnomAD v4 (PM2_supporting)