1-235380119-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_003193.5(TBCE):āc.70C>Gā(p.Arg24Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,460 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R24H) has been classified as Uncertain significance.
Frequency
Consequence
NM_003193.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TBCE | NM_003193.5 | c.70C>G | p.Arg24Gly | missense_variant | Exon 2 of 17 | ENST00000642610.2 | NP_003184.1 | |
TBCE | NM_001287801.2 | c.70C>G | p.Arg24Gly | missense_variant | Exon 2 of 18 | NP_001274730.1 | ||
TBCE | NM_001079515.3 | c.70C>G | p.Arg24Gly | missense_variant | Exon 2 of 17 | NP_001072983.1 | ||
TBCE | NM_001287802.2 | c.-241C>G | 5_prime_UTR_variant | Exon 2 of 16 | NP_001274731.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TBCE | ENST00000642610.2 | c.70C>G | p.Arg24Gly | missense_variant | Exon 2 of 17 | NM_003193.5 | ENSP00000494796.1 | |||
ENSG00000285053 | ENST00000645655.1 | c.70C>G | p.Arg24Gly | missense_variant | Exon 5 of 20 | ENSP00000495202.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251438Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135892
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457460Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 725114
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at