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]
Link to SEPIO compliant JSON-LD document
  • 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_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val)

CA5416851

418159 (ClinVar)

Gene: DCLRE1C
Condition: severe combined immunodeficiency due to DCLRE1C deficiency
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: b826bd46-0af4-41bf-84c4-a6c758851c4d
Approved on: 2024-04-01
Published on: 2024-04-01

HGVS expressions

NM_001033855.3:c.419C>T
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val)
NC_000010.11:g.14935508G>A
CM000672.2:g.14935508G>A
NC_000010.10:g.14977507G>A
CM000672.1:g.14977507G>A
NC_000010.9:g.15017513G>A
NG_007276.1:g.23588C>T
ENST00000378241.6:c.*466C>T
ENST00000456122.2:c.*605C>T
ENST00000489161.2:c.*197C>T
ENST00000492201.6:c.419C>T
ENST00000697047.1:c.419C>T
ENST00000697070.1:c.419C>T
ENST00000697071.1:c.*339C>T
ENST00000697072.1:c.419C>T
ENST00000697073.1:c.*197C>T
ENST00000697074.1:c.*197C>T
ENST00000697075.1:c.419C>T
ENST00000697076.1:c.419C>T
ENST00000697077.1:c.*130C>T
ENST00000697078.1:c.*126C>T
ENST00000697079.1:n.123C>T
ENST00000697080.1:c.*283C>T
ENST00000697081.1:c.*36C>T
ENST00000697082.1:c.*605C>T
ENST00000697083.1:c.*279C>T
ENST00000697084.1:c.419C>T
ENST00000697085.1:c.*186C>T
ENST00000697086.1:n.2856C>T
ENST00000697087.1:c.*339C>T
ENST00000697088.1:c.*36C>T
ENST00000697089.1:c.*339C>T
ENST00000697090.1:n.427C>T
ENST00000378278.7:c.419C>T
ENST00000357717.6:c.74C>T
ENST00000378241.5:c.59C>T
ENST00000378246.6:c.74C>T
ENST00000378249.5:c.74C>T
ENST00000378254.5:c.59C>T
ENST00000378255.5:c.59C>T
ENST00000378258.5:c.59C>T
ENST00000378278.6:c.419C>T
ENST00000378289.8:c.419C>T
ENST00000396817.6:c.59C>T
ENST00000418843.5:c.-20C>T
ENST00000456122.1:c.74C>T
NM_001033855.2:c.419C>T
NM_001033857.2:c.59C>T
NM_001033858.2:c.59C>T
NM_001289076.1:c.74C>T
NM_001289077.1:c.59C>T
NM_001289078.1:c.74C>T
NM_001289079.1:c.59C>T
NM_022487.3:c.74C>T
NR_110297.1:n.1053C>T
NM_001350965.1:c.419C>T
NM_001350966.1:c.74C>T
NM_001350967.1:c.59C>T
NR_146960.1:n.841C>T
NR_146961.1:n.870C>T
NR_146962.1:n.841C>T
NM_001033857.3:c.59C>T
NM_001033858.3:c.59C>T
NM_001289076.2:c.74C>T
NM_001289077.2:c.59C>T
NM_001289078.2:c.74C>T
NM_001289079.2:c.59C>T
NM_001350965.2:c.419C>T
NM_001350966.2:c.74C>T
NM_001350967.2:c.59C>T
NM_022487.4:c.74C>T
NR_110297.2:n.717C>T
NR_146961.2:n.534C>T

Likely Benign

Met criteria codes 1
BS1

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 DCLRE1C Version 1.0.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Severe Combined Immunodeficiency Disease VCEP
The c.419C>T (NM_001033855.3) variant in DCLRE1C is a missense variant predicted to cause the substitution of Alanine by Valine at amino acid 140 (p.Ala140Val). The filtering allele frequency (the lower threshold of the 95% CI of 138/75030 alleles) of the c.419C>T variant in DCLRE1C is 0.001589 for African/African American chromosomes by gnomAD v4, which is higher than the ClinGen SCID VCEP threshold (>0.00078) for BS1, and therefore meets this criterion (BS1). No homozygotes have been observed in gnomAD. To our knowledge, this variant has not been reported in the literature in individuals affected with SCID/DCLRE1C-related conditions or in functional studies. In summary, this variant meets the criteria to be classified as Likely Benign for autosomal recessive severe combined immunodeficiency due to DCLRE1C deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP. Criteria applied: BS1 (VCEP specifications version 1.0).
Met criteria codes
BS1
The filtering allele frequency (the lower threshold of the 95% CI of 138/75030 alleles) of the c.419C>T variant in DCLRE1C is 0.001589 for African/African American chromosomes by gnomAD v4, which is higher than the ClinGen SCID VCEP threshold (>0.00078) for BS1, and therefore meets this criterion (BS1). No homozygotes have been observed in gnomAD.
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.