11-112086693-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_012459.4(TIMM8B):c.31G>A(p.Glu11Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000711 in 1,603,878 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 (★).
Frequency
Consequence
NM_012459.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TIMM8B | ENST00000504148.3 | c.31G>A | p.Glu11Lys | missense_variant | Exon 1 of 2 | 1 | NM_012459.4 | ENSP00000422122.2 | ||
SDHD | ENST00000375549.8 | c.-215C>T | upstream_gene_variant | 1 | NM_003002.4 | ENSP00000364699.3 | ||||
ENSG00000255292 | ENST00000532699.1 | n.-215C>T | upstream_gene_variant | 3 | ENSP00000456434.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152238Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000253 AC: 6AN: 237212Hom.: 0 AF XY: 0.0000232 AC XY: 3AN XY: 129186
GnomAD4 exome AF: 0.0000765 AC: 111AN: 1451640Hom.: 0 Cov.: 32 AF XY: 0.0000679 AC XY: 49AN XY: 722140
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152238Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.76G>A (p.E26K) alteration is located in exon 1 (coding exon 1) of the TIMM8B gene. This alteration results from a G to A substitution at nucleotide position 76, causing the glutamic acid (E) at amino acid position 26 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at