NM_024649.5:c.1110G>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024649.5(BBS1):c.1110G>T(p.Pro370Pro) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,564 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P370P) has been classified as Likely pathogenic.
Frequency
Consequence
NM_024649.5 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BBS1 | ENST00000318312.12 | c.1110G>T | p.Pro370Pro | splice_region_variant, synonymous_variant | Exon 11 of 17 | 1 | NM_024649.5 | ENSP00000317469.7 | ||
ENSG00000256349 | ENST00000419755.3 | c.1221G>T | p.Pro407Pro | splice_region_variant, synonymous_variant | Exon 11 of 17 | 2 | ENSP00000398526.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000801 AC: 2AN: 249712Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135162
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460564Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726634
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at