19-4652311-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_152362.3(TNFAIP8L1):c.442G>T(p.Gly148Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000656 in 152,368 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152362.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TNFAIP8L1 | NM_152362.3 | c.442G>T | p.Gly148Cys | missense_variant | 2/2 | ENST00000327473.9 | |
TNFAIP8L1 | NM_001167942.1 | c.442G>T | p.Gly148Cys | missense_variant | 2/2 | ||
TNFAIP8L1 | XM_005259487.4 | c.442G>T | p.Gly148Cys | missense_variant | 2/2 | ||
TNFAIP8L1 | XM_011527680.3 | c.442G>T | p.Gly148Cys | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNFAIP8L1 | ENST00000327473.9 | c.442G>T | p.Gly148Cys | missense_variant | 2/2 | 1 | NM_152362.3 | P1 | |
TNFAIP8L1 | ENST00000536716.1 | c.442G>T | p.Gly148Cys | missense_variant | 2/2 | 2 | P1 | ||
MYDGF | ENST00000599761.5 | c.186+7620C>A | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152250Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000629 AC: 1AN: 158902Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 87038
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1408284Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 696886
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152368Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74506
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at