rs727504733
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6_Moderate
The NM_001032283.3(TMPO):c.681A>G(p.Gly227Gly) variant causes a synonymous change. The variant allele was found at a frequency of 0.000000684 in 1,461,618 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 (★).
Frequency
Consequence
NM_001032283.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMPO | NM_001032283.3 | c.681A>G | p.Gly227Gly | synonymous_variant | Exon 5 of 9 | ENST00000556029.6 | NP_001027454.1 | |
TMPO | NM_001307975.2 | c.664-195A>G | intron_variant | Intron 4 of 7 | NP_001294904.1 | |||
TMPO | NM_001032284.3 | c.664-2112A>G | intron_variant | Intron 4 of 5 | NP_001027455.1 | |||
TMPO | XM_005269132.5 | c.664-704A>G | intron_variant | Intron 4 of 6 | XP_005269189.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461618Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727104
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Benign:1
Gly227Gly in exon 5 of TMPO: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at