rs150243412
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_ModerateBP6_Very_StrongBS2
The NM_198994.3(TGM6):c.1301G>A(p.Arg434His) variant causes a missense change. The variant allele was found at a frequency of 0.000129 in 1,614,162 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 (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R434C) has been classified as Uncertain significance.
Frequency
Consequence
NM_198994.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TGM6 | NM_198994.3 | c.1301G>A | p.Arg434His | missense_variant | 9/13 | ENST00000202625.7 | |
TGM6 | NM_001254734.2 | c.1301G>A | p.Arg434His | missense_variant | 9/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TGM6 | ENST00000202625.7 | c.1301G>A | p.Arg434His | missense_variant | 9/13 | 1 | NM_198994.3 | P1 | |
TGM6 | ENST00000381423.1 | c.1301G>A | p.Arg434His | missense_variant | 9/12 | 1 |
Frequencies
GnomAD3 genomes AF: 0.000637 AC: 97AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000131 AC: 33AN: 251274Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135856
GnomAD4 exome AF: 0.0000766 AC: 112AN: 1461866Hom.: 0 Cov.: 33 AF XY: 0.0000646 AC XY: 47AN XY: 727232
GnomAD4 genome AF: 0.000637 AC: 97AN: 152296Hom.: 0 Cov.: 32 AF XY: 0.000604 AC XY: 45AN XY: 74456
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | Sep 14, 2016 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 19, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at