rs863224871
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The NM_003824.4(FADD):c.52_58del(p.Ser18Ter) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000311 in 1,606,574 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. S16S) has been classified as Likely benign.
Frequency
Consequence
NM_003824.4 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FADD | NM_003824.4 | c.52_58del | p.Ser18Ter | frameshift_variant | 1/2 | ENST00000301838.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FADD | ENST00000301838.5 | c.52_58del | p.Ser18Ter | frameshift_variant | 1/2 | 1 | NM_003824.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 152032Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1454542Hom.: 0 AF XY: 0.00000277 AC XY: 2AN XY: 723220
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 152032Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74262
ClinVar
Submissions by phenotype
FADD-related immunodeficiency Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Nov 30, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at