Classification rationale

In progress — classification not generated yet.

No rationale recorded.

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

Applied · 0

No criteria were applied for this variant.

Assessed · not applied

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%

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%

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

Not observed in any ancestry group.

gnomAD v4 ↗ gnomAD v2 ↗ gnomAD 🇨🇦 ↗

ClinVar

In progress — evidence not uploaded yet.

ClinVar ↗

In silico

In progress — evidence not uploaded yet.

SpliceAI ↗

Functional

In progress — evidence not uploaded yet.

OncoKB ↗

COSMIC

Somatic evidence

COSMIC

In progress — evidence not uploaded yet.

Hotspots

This variant does not lie in a statistically significant cancer hotspot.

COSMIC ↗

Sources & reference links

8Sources

CSpec VCEP

ClinVar

gnomAD v2.1

gnomAD v4.1

gnomAD-Canada

SpliceAI

OncoKB

COSMIC

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

23619275 ↗ ACMG position statement on prenatal/preconception expanded carrier screening. 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

9536098 ↗ Statistical features of human exons and their flanking regions. 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