NM_025124.4:c.479C>T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_025124.4(TMEM134):c.479C>T(p.Pro160Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000054 in 1,610,310 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025124.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000139 AC: 33AN: 237988Hom.: 1 AF XY: 0.000175 AC XY: 23AN XY: 131552
GnomAD4 exome AF: 0.0000535 AC: 78AN: 1458078Hom.: 2 Cov.: 33 AF XY: 0.0000717 AC XY: 52AN XY: 725242
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74442
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.479C>T (p.P160L) alteration is located in exon 6 (coding exon 6) of the TMEM134 gene. This alteration results from a C to T substitution at nucleotide position 479, causing the proline (P) at amino acid position 160 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