1-218405179-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003238.6(TGFB2):c.357G>T(p.Pro119=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000014 in 1,430,908 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P119P) has been classified as Likely benign.
Frequency
Consequence
NM_003238.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TGFB2 | NM_003238.6 | c.357G>T | p.Pro119= | synonymous_variant | 2/7 | ENST00000366930.9 | |
TGFB2 | NM_001135599.4 | c.441G>T | p.Pro147= | synonymous_variant | 3/8 | ||
TGFB2 | NR_138148.2 | n.1723G>T | non_coding_transcript_exon_variant | 2/7 | |||
TGFB2 | NR_138149.2 | n.1807G>T | non_coding_transcript_exon_variant | 3/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TGFB2 | ENST00000366930.9 | c.357G>T | p.Pro119= | synonymous_variant | 2/7 | 1 | NM_003238.6 | P1 | |
TGFB2 | ENST00000366929.4 | c.441G>T | p.Pro147= | synonymous_variant | 3/8 | 1 | |||
TGFB2 | ENST00000488793.1 | n.21G>T | non_coding_transcript_exon_variant | 2/3 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1430908Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 706956
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at