20-2403658-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PP3BS2_Supporting
The NM_198994.3(TGM6):c.1171G>C(p.Val391Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000308 in 1,461,872 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V391M) has been classified as Likely benign.
Frequency
Consequence
NM_198994.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TGM6 | ENST00000202625.7 | c.1171G>C | p.Val391Leu | missense_variant | Exon 9 of 13 | 1 | NM_198994.3 | ENSP00000202625.2 | ||
TGM6 | ENST00000381423.1 | c.1171G>C | p.Val391Leu | missense_variant | Exon 9 of 12 | 1 | ENSP00000370831.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251454Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135910
GnomAD4 exome AF: 0.0000308 AC: 45AN: 1461872Hom.: 0 Cov.: 32 AF XY: 0.0000248 AC XY: 18AN XY: 727236
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at