NM_016272.4:c.580G>C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016272.4(TOB2):c.580G>C(p.Gly194Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000868 in 1,613,820 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 Uncertain significance (★).
Frequency
Consequence
NM_016272.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TOB2 | NM_016272.4 | c.580G>C | p.Gly194Arg | missense_variant | Exon 2 of 2 | ENST00000327492.4 | NP_057356.1 | |
TOB2 | XM_005261315.3 | c.580G>C | p.Gly194Arg | missense_variant | Exon 2 of 2 | XP_005261372.1 | ||
TOB2 | XM_006724105.4 | c.580G>C | p.Gly194Arg | missense_variant | Exon 2 of 2 | XP_006724168.1 | ||
TOB2 | XM_017028539.2 | c.580G>C | p.Gly194Arg | missense_variant | Exon 2 of 2 | XP_016884028.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000805 AC: 2AN: 248482Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134930
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461656Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 727108
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.580G>C (p.G194R) alteration is located in exon 2 (coding exon 1) of the TOB2 gene. This alteration results from a G to C substitution at nucleotide position 580, causing the glycine (G) at amino acid position 194 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at