rs737868
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000332710.8(TBX1):c.-85G>A variant causes a splice region, 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000332710.8 splice_region, 5_prime_UTR
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBX1 | NM_005992.1 | c.-85G>A | splice_region_variant, 5_prime_UTR_variant | 2/10 | |||
TBX1 | NM_080646.2 | c.-85G>A | splice_region_variant, 5_prime_UTR_variant | 2/9 | |||
TBX1 | NM_080647.1 | c.-85G>A | splice_region_variant, 5_prime_UTR_variant | 2/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBX1 | ENST00000329705.11 | c.-85G>A | splice_region_variant, 5_prime_UTR_variant | 2/9 | 1 | A2 | |||
TBX1 | ENST00000332710.8 | c.-85G>A | splice_region_variant, 5_prime_UTR_variant | 2/9 | 1 | P2 | |||
TBX1 | ENST00000359500.7 | c.-85G>A | splice_region_variant, 5_prime_UTR_variant | 2/10 | 1 | A2 |
Frequencies
GnomAD3 genomes Cov.: 36
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1424374Hom.: 0 Cov.: 54 AF XY: 0.00 AC XY: 0AN XY: 706378
GnomAD4 genome Cov.: 36
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at