17-54912677-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PVS1_SupportingPM2
The NM_001321174.2(TOM1L1):c.3G>C(p.Met1?) variant causes a start lost change. The variant allele was found at a frequency of 0.0000211 in 1,564,288 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001321174.2 start_lost
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000237 AC: 5AN: 210872Hom.: 0 AF XY: 0.0000348 AC XY: 4AN XY: 115034
GnomAD4 exome AF: 0.0000191 AC: 27AN: 1412138Hom.: 0 Cov.: 30 AF XY: 0.0000214 AC XY: 15AN XY: 701592
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.234G>C (p.M78I) alteration is located in exon 4 (coding exon 4) of the TOM1L1 gene. This alteration results from a G to C substitution at nucleotide position 234, causing the methionine (M) at amino acid position 78 to be replaced by an isoleucine (I). 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