21-17594254-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006806.5(BTG3):c.598G>A(p.Gly200Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000942 in 1,613,166 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006806.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
BTG3 | ENST00000348354.7 | c.598G>A | p.Gly200Ser | missense_variant | Exon 5 of 5 | 1 | NM_006806.5 | ENSP00000284879.8 | ||
BTG3 | ENST00000339775.10 | c.730G>A | p.Gly244Ser | missense_variant | Exon 6 of 6 | 1 | ENSP00000344609.6 | |||
BTG3 | ENST00000471860.1 | n.554G>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000724 AC: 11AN: 151948Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 251132Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135716
GnomAD4 exome AF: 0.0000965 AC: 141AN: 1461218Hom.: 0 Cov.: 31 AF XY: 0.0000894 AC XY: 65AN XY: 726896
GnomAD4 genome AF: 0.0000724 AC: 11AN: 151948Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74240
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.730G>A (p.G244S) alteration is located in exon 6 (coding exon 5) of the BTG3 gene. This alteration results from a G to A substitution at nucleotide position 730, causing the glycine (G) at amino acid position 244 to be replaced by a serine (S). 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