1-54036645-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004872.5(TMEM59):c.781G>C(p.Val261Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000659 in 151,728 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004872.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151728Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151728Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74064
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.781G>C (p.V261L) alteration is located in exon 7 (coding exon 7) of the TMEM59 gene. This alteration results from a G to C substitution at nucleotide position 781, causing the valine (V) at amino acid position 261 to be replaced by a leucine (L). 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