11-87321279-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022918.4(TMEM135):c.1323G>T(p.Arg441Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000224 in 1,613,530 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022918.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMEM135 | NM_022918.4 | c.1323G>T | p.Arg441Ser | missense_variant | 15/15 | ENST00000305494.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM135 | ENST00000305494.6 | c.1323G>T | p.Arg441Ser | missense_variant | 15/15 | 1 | NM_022918.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000112 AC: 17AN: 152036Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251110Hom.: 0 AF XY: 0.0000737 AC XY: 10AN XY: 135704
GnomAD4 exome AF: 0.000235 AC: 344AN: 1461494Hom.: 0 Cov.: 31 AF XY: 0.000238 AC XY: 173AN XY: 727078
GnomAD4 genome ? AF: 0.000112 AC: 17AN: 152036Hom.: 0 Cov.: 32 AF XY: 0.0000808 AC XY: 6AN XY: 74246
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2021 | The c.1323G>T (p.R441S) alteration is located in exon 15 (coding exon 15) of the TMEM135 gene. This alteration results from a G to T substitution at nucleotide position 1323, causing the arginine (R) at amino acid position 441 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