rs1554180622
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PP5_Moderate
The 6-80106626-CGGGTGCTCCGCCCTCCCCGCAGGCGGCGTGCGGCTGCATAGCCTGAGAATCCCGGTGGTGAGCGGGGATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACTGGCGTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTTTTGCACCCCGCCGCGACTGTCGAGGATGCGGCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCGGAGCCCCGGGAGTACG-C variant causes a splice region, coding sequence, 5 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Pathogenic (★).
Frequency
Consequence
NM_183050.4 splice_region, coding_sequence, 5_prime_UTR
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 |
---|---|---|---|---|---|---|---|
BCKDHB | NM_183050.4 | splice_region_variant, coding_sequence_variant, 5_prime_UTR_variant | 1/10 | ENST00000320393.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BCKDHB | ENST00000320393.9 | splice_region_variant, coding_sequence_variant, 5_prime_UTR_variant | 1/10 | 1 | NM_183050.4 | P1 | |||
BCKDHB | ENST00000356489.9 | splice_region_variant, coding_sequence_variant, 5_prime_UTR_variant | 1/11 | 1 | P1 | ||||
BCKDHB | ENST00000369760.8 | splice_region_variant, coding_sequence_variant, 5_prime_UTR_variant | 1/6 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Maple syrup urine disease Pathogenic:1
Pathogenic, criteria provided, single submitter | research | Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital | Jan 01, 2014 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at