chr1-17053971-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003000.3(SDHB):c.49A>C(p.Thr17Pro) variant causes a missense 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. 13/21 in silico tools predict a benign 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. T17A) has been classified as Uncertain significance.
Frequency
Consequence
NM_003000.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SDHB | NM_003000.3 | c.49A>C | p.Thr17Pro | missense_variant | 1/8 | ENST00000375499.8 | |
SDHB | NM_001407361.1 | c.49A>C | p.Thr17Pro | missense_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SDHB | ENST00000375499.8 | c.49A>C | p.Thr17Pro | missense_variant | 1/8 | 1 | NM_003000.3 | P1 | |
SDHB | ENST00000466613.2 | n.61A>C | non_coding_transcript_exon_variant | 1/3 | 2 | ||||
SDHB | ENST00000485515.5 | n.37A>C | non_coding_transcript_exon_variant | 1/7 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1460738Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 726612
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at