5-218295-T-G
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004168.4(SDHA):c.-61T>G variant causes a upstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000392 in 1,273,984 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004168.4 upstream_gene
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SDHA | NM_004168.4 | c.-61T>G | upstream_gene_variant | ENST00000264932.11 | NP_004159.2 | |||
CCDC127 | NM_145265.3 | c.-213A>C | upstream_gene_variant | ENST00000296824.4 | NP_660308.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SDHA | ENST00000264932.11 | c.-61T>G | upstream_gene_variant | 1 | NM_004168.4 | ENSP00000264932.6 | ||||
CCDC127 | ENST00000296824.4 | c.-213A>C | upstream_gene_variant | 1 | NM_145265.3 | ENSP00000296824.2 | ||||
ENSG00000286001 | ENST00000651543.1 | n.-61T>G | upstream_gene_variant | ENSP00000499215.1 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 0.00000392 AC: 5AN: 1273984Hom.: 0 Cov.: 28 AF XY: 0.00000638 AC XY: 4AN XY: 626550 show subpopulations
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at