3-36831581-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001329998.2(TRANK1):c.8002G>A(p.Val2668Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000684 in 1,461,392 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001329998.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRANK1 | NM_001329998.2 | c.8002G>A | p.Val2668Ile | missense_variant | 22/24 | ENST00000645898.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRANK1 | ENST00000645898.2 | c.8002G>A | p.Val2668Ile | missense_variant | 22/24 | NM_001329998.2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000806 AC: 2AN: 248174Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134672
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461392Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 726946
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at