chr5-218353-G-T
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000651543.1(ENSG00000286001):n.-3G>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000459 in 1,306,702 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
ENST00000651543.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
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.-3G>T | 5_prime_UTR_variant | Exon 1 of 15 | ENST00000264932.11 | NP_004159.2 | ||
CCDC127 | NM_145265.3 | c.-271C>A | upstream_gene_variant | ENST00000296824.4 | NP_660308.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000286001 | ENST00000651543.1 | n.-3G>T | non_coding_transcript_exon_variant | Exon 1 of 24 | ENSP00000499215.1 | |||||
SDHA | ENST00000264932.11 | c.-3G>T | 5_prime_UTR_variant | Exon 1 of 15 | 1 | NM_004168.4 | ENSP00000264932.6 | |||
ENSG00000286001 | ENST00000651543.1 | n.-3G>T | 5_prime_UTR_variant | Exon 1 of 24 | ENSP00000499215.1 | |||||
CCDC127 | ENST00000296824.4 | c.-271C>A | upstream_gene_variant | 1 | NM_145265.3 | ENSP00000296824.2 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 0.00000459 AC: 6AN: 1306702Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 644858 show subpopulations
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge -
Hereditary cancer-predisposing syndrome Uncertain:1
The c.-3G>T variant is located in the 5' untranslated region (5’ UTR) of the SDHA gene. This variant results from a G to T substitution 3 bases upstream from the first translated codon. This nucleotide position is well conserved on limited sequence alignment. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at