Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computer assertion could be determined for this classification!

Variant: NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr)

CA160243

134579 (ClinVar)

Gene: JAK3
Condition: T-B+ severe combined immunodeficiency due to JAK3 deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 2bbca366-6dfe-4d9b-9a81-9d11b903db18
Approved on: 2024-04-03
Published on: 2024-04-03

HGVS expressions

NM_000215.4:c.3268G>A
NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr)
NC_000019.10:g.17826850C>T
CM000681.2:g.17826850C>T
NC_000019.9:g.17937659C>T
CM000681.1:g.17937659C>T
NC_000019.8:g.17798659C>T
NG_007273.1:g.26142G>A
ENST00000526008.6:c.*1825G>A
ENST00000696967.1:n.2445G>A
ENST00000696968.1:n.501G>A
ENST00000696969.1:n.2225G>A
ENST00000458235.7:c.3268G>A
ENST00000458235.5:c.3268G>A
ENST00000527031.5:n.2279-1540G>A
ENST00000527670.5:c.3268G>A
NM_000215.3:c.3268G>A
More

Benign

Met criteria codes 1
BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for JAK3 Version 1.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Severe Combined Immunodeficiency Disease VCEP
NM_000215.4(JAK3):c.3268G>A is a missense variant predicted to cause substitution of Alanine by Threonine at amino acid 1090 (p.Ala1090Thr). The filtering allele frequency (the lower threshold of the 95% CI of 373/75020) of the c.3268G>A variant in JAK3 is 0.004556 for African/African American chromosomes by gnomAD v4, which is higher than the ClinGen SCID VCEP threshold (>0.00447) for BA1, and therefore meets this criterion (BA1). In summary, this variant meets the criteria to be classified as Benign for autosomal recessive severe combined immunodeficiency due to JAK3 deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP: BA1 (VCEP specifications version 1).
Met criteria codes
BA1
The filtering allele frequency (the lower threshold of the 95% CI of 373/75020) of the c.3268G>A variant in JAK3 is 0.004556 for African/African American chromosomes by gnomAD v4, which is higher than the ClinGen SCID VCEP threshold (>0.00447) for BA1, and therefore meets this criterion (BA1).
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.
¤ Powered by BCM's Genboree.