Classification rationale
In progress — classification not generated yet.
No rationale recorded.
DDX41
Final classification
In progress — classification not generated yet.
DDX41
c.299-3C>T
p.?
· exon NC_000005.10
This variant
In progress — classification not generated yet.
In progress — classification not generated yet.
Gene diagram
· NM_016222.2 · variants mapped to exon structure
DDX41
NM_016222.2
Fetching transcript structure from UCSC…
Applied criteria · 0 applied · 28 assessed
MetEvidence satisfies this criterion.
Not metEvaluated against available evidence; threshold not reached.
Not assessedApplies in principle, but no evidence was found to evaluate it.
N/ADoesn't apply to this variant type.
Applied · 0
No criteria were applied for this variant.
Assessed · not applied
· 0 not met · 28 not assessed
Pathogenic
PVS1
PS1
PS2
PS3
PS4
PM1
PM2
PM3
PM4
PM5
PM6
PP1
PP2
PP3
PP4
PP5
Benign
BA1
BS1
BS2
BS3
BS4
BP1
BP2
BP3
BP4
BP5
BP6
BP7
Research & evidence
Population frequency
gnomAD v4.1
gnomAD v2.1
v4.1
This variant is present in gnomAD v4.1 (AF= 1.23907e-05; MAF= 0.00124%, 20/1614118 alleles, homozygotes = 0) and has highest observed frequency in the Middle Eastern population (AF= 0.000164962; MAF= 0.01650%, 1/6062 alleles, homozygotes = 0); grpmax FAF= 8.03e-06.
v2.1
This variant is present in gnomAD v2.1 (AF= 1.19311e-05; MAF= 0.00119%, 3/251444 alleles, homozygotes = 0) and has highest observed frequency in the Admixed American population (AF= 2.89084e-05; MAF= 0.00289%, 1/34592 alleles, homozygotes = 0); grpmax FAF= 2.92e-06.
🇨🇦 CA
Absent from gnomAD-Canada v1.0.
Allele frequency by ancestry
three datasets · side by side
gnomAD v4.1
0.0012%
· 20 / 1,614,118
0 hom · FAF 0.0008%
0 hom · FAF 0.0008%
Middle Eastern 1 / 6,062 |
0.016% |
Admixed American 1 / 60,030 |
0.0017% |
Remaining individuals 1 / 62,502 |
0.0016% |
European (Finnish) 1 / 63,932 |
0.0016% |
European (non-Finnish) 16 / 1,180,046 |
0.0014% |
+ 5 not observed (Amish, East Asian, South Asian, Ashkenazi Jewish, African/African American)
gnomAD v2.1
0.0012%
· 3 / 251,444
0 hom · FAF 0.00029%
0 hom · FAF 0.00029%
Admixed American 1 / 34,592 |
0.0029% |
European (non-Finnish) 2 / 113,734 |
0.0018% |
+ 6 not observed (African/African American, Ashkenazi Jewish, East Asian, European (Finnish), Remaining individuals, South Asian)
gnomAD Canada 🇨🇦
Absent
· 0 / ?
0 hom
0 hom
Not observed in any ancestry group.
COSMIC
Somatic evidence
COSMIC
In progress — evidence not uploaded yet.
Hotspots
This variant does not lie in a statistically significant cancer hotspot.
Sources & reference links
Triaged references · 8 PMIDs not cited in assessment
17576681 ↗
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
CLINVAR
25730230 ↗
Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine.
CLINVAR
25741868 ↗
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
CLINVAR
23037933 ↗
Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and recommendations from the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children.
CLINVAR
24394680 ↗
Parental permission for pilot newborn screening research: guidelines from the NBSTRN.
CLINVAR
31022120 ↗
ACOG Committee Opinion No. 778 Summary: Newborn Screening and the Role of the Obstetrician-Gynecologist.
CLINVAR