chr2-97757374-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015348.2(TMEM131):c.5377G>A(p.Gly1793Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000344 in 1,597,708 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
NM_015348.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000458 AC: 11AN: 240176Hom.: 0 AF XY: 0.0000539 AC XY: 7AN XY: 129984
GnomAD4 exome AF: 0.0000360 AC: 52AN: 1445620Hom.: 0 Cov.: 30 AF XY: 0.0000363 AC XY: 26AN XY: 716482
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74298
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5377G>A (p.G1793S) alteration is located in exon 41 (coding exon 41) of the TMEM131 gene. This alteration results from a G to A substitution at nucleotide position 5377, causing the glycine (G) at amino acid position 1793 to be replaced by a serine (S). 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