rs398124575
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PP3_Strong
The ENST00000320393.9(BCKDHB):c.365C>A(p.Thr122Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,458,336 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T122I) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000320393.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BCKDHB | NM_183050.4 | c.365C>A | p.Thr122Asn | missense_variant | 4/10 | ENST00000320393.9 | NP_898871.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BCKDHB | ENST00000320393.9 | c.365C>A | p.Thr122Asn | missense_variant | 4/10 | 1 | NM_183050.4 | ENSP00000318351 | P1 | |
BCKDHB | ENST00000356489.9 | c.365C>A | p.Thr122Asn | missense_variant | 4/11 | 1 | ENSP00000348880 | P1 | ||
BCKDHB | ENST00000369760.8 | c.365C>A | p.Thr122Asn | missense_variant | 4/6 | 3 | ENSP00000358775 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1458336Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725714
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Maple syrup urine disease Pathogenic:1Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Counsyl | Nov 21, 2017 | - - |
Likely pathogenic, no assertion criteria provided | clinical testing | Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at