chr11-70203537-A-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_003824.4(FADD):c.78A>G(p.Leu26=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000109 in 1,611,822 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. L26L) has been classified as Likely benign.
Frequency
Consequence
NM_003824.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FADD | NM_003824.4 | c.78A>G | p.Leu26= | synonymous_variant | 1/2 | ENST00000301838.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FADD | ENST00000301838.5 | c.78A>G | p.Leu26= | synonymous_variant | 1/2 | 1 | NM_003824.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000395 AC: 6AN: 152086Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000576 AC: 14AN: 242894Hom.: 0 AF XY: 0.0000526 AC XY: 7AN XY: 133036
GnomAD4 exome AF: 0.000116 AC: 170AN: 1459736Hom.: 0 Cov.: 34 AF XY: 0.000106 AC XY: 77AN XY: 726222
GnomAD4 genome ? AF: 0.0000395 AC: 6AN: 152086Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74282
ClinVar
Submissions by phenotype
FADD-related immunodeficiency Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 01, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at