13-113804982-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_182614.4(TMEM255B):c.767C>T(p.Thr256Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000187 in 1,606,158 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182614.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMEM255B | NM_182614.4 | c.767C>T | p.Thr256Met | missense_variant | 8/9 | ENST00000375353.5 | |
TMEM255B | NM_001348663.2 | c.669+3170C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM255B | ENST00000375353.5 | c.767C>T | p.Thr256Met | missense_variant | 8/9 | 1 | NM_182614.4 | P1 | |
TMEM255B | ENST00000467169.1 | n.381C>T | non_coding_transcript_exon_variant | 2/3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152164Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000370 AC: 9AN: 243356Hom.: 0 AF XY: 0.0000151 AC XY: 2AN XY: 132368
GnomAD4 exome AF: 0.0000186 AC: 27AN: 1453994Hom.: 0 Cov.: 33 AF XY: 0.0000207 AC XY: 15AN XY: 723542
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152164Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 07, 2024 | The c.767C>T (p.T256M) alteration is located in exon 8 (coding exon 8) of the TMEM255B gene. This alteration results from a C to T substitution at nucleotide position 767, causing the threonine (T) at amino acid position 256 to be replaced by a methionine (M). 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