Variant: NC_000009.12:g.35657873G>A

CA5045836

383542 (ClinVar)

Gene: N/A

Condition: cartilage-hair hypoplasia

Inheritance Mode: Autosomal recessive inheritance

UUID: f0e47b98-d239-46c5-b417-41034b32b404

Approved on: 2025-06-10

Published on: 2025-06-10

HGVS expressions

NC_000009.12:g.35657873G>A
CM000671.2:g.35657873G>A
NC_000009.11:g.35657870G>A
CM000671.1:g.35657870G>A
NC_000009.10:g.35647870G>A
NG_017041.1:g.5146C>T
NG_033120.1:g.4584G>A
NR_003051.3:n.146C>T

Uncertain Significance

• Not Met criteria codes: PM2

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 RMRP Version 1.0.0

Evidence submitted by expert panel

Severe Combined Immunodeficiency Disease VCEP

This variant is present in a frequency of 0.001105 in the Middle Eastern population. Overall, 89 variants have been observed in a total of 694012 alleles (0.0001282). The Grpmax Filtering AF is 0.0003011, which is above the PM2 threshold the SCID VCEP has established (0.0000447). To date, there are no patients reported with this variant, and therefore none of the phenotypic codes are applicable. In summary, this variant is classified as uncertain significance with none of the codes being applicable.

Not Met criteria codes

• PM2: This variant is present in a frequency of 0.001105 in the Middle Eastern population. Overall, 89 variants have been observed in a total of 694012 alleles (0.0001282). The Grpmax Filtering AF is 0.0003011, which is above the PM2 threshold the SCID VCEP has established (0.0000447). Therefore this code is not met.