chr11-112086755-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000541231.1(TIMM8B):c.14G>A(p.Ser5Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000187 in 1,602,092 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000541231.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TIMM8B | ENST00000504148.3 | c.-32G>A | 5_prime_UTR_variant | Exon 1 of 2 | 1 | NM_012459.4 | ENSP00000422122.2 | |||
SDHD | ENST00000375549.8 | c.-153C>T | upstream_gene_variant | 1 | NM_003002.4 | ENSP00000364699.3 | ||||
ENSG00000255292 | ENST00000532699.1 | n.-153C>T | upstream_gene_variant | 3 | ENSP00000456434.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152278Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000440 AC: 1AN: 227074Hom.: 0 AF XY: 0.00000814 AC XY: 1AN XY: 122870
GnomAD4 exome AF: 6.90e-7 AC: 1AN: 1449814Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 720498
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152278Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74400
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.14G>A (p.S5N) 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 14, causing the serine (S) at amino acid position 5 to be replaced by an asparagine (N). 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