1-43273159-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_144626.3(TMEM125):c.437C>T(p.Ala146Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000552 in 1,613,770 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_144626.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000137 AC: 34AN: 248218Hom.: 0 AF XY: 0.000193 AC XY: 26AN XY: 134614
GnomAD4 exome AF: 0.0000561 AC: 82AN: 1461412Hom.: 1 Cov.: 31 AF XY: 0.0000853 AC XY: 62AN XY: 726994
GnomAD4 genome AF: 0.0000459 AC: 7AN: 152358Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74508
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.437C>T (p.A146V) alteration is located in exon 4 (coding exon 1) of the TMEM125 gene. This alteration results from a C to T substitution at nucleotide position 437, causing the alanine (A) at amino acid position 146 to be replaced by a valine (V). 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