chr11-129858651-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_138788.5(TMEM45B):āc.794A>Gā(p.Gln265Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000181 in 1,572,950 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 (ā ).
Frequency
Consequence
NM_138788.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM45B | NM_138788.5 | c.794A>G | p.Gln265Arg | missense_variant | 6/6 | ENST00000281441.8 | NP_620143.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM45B | ENST00000281441.8 | c.794A>G | p.Gln265Arg | missense_variant | 6/6 | 2 | NM_138788.5 | ENSP00000281441 | P1 | |
TMEM45B | ENST00000524567.1 | c.794A>G | p.Gln265Arg | missense_variant | 6/6 | 1 | ENSP00000436293 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000102 AC: 19AN: 185936Hom.: 0 AF XY: 0.0000919 AC XY: 9AN XY: 97920
GnomAD4 exome AF: 0.000196 AC: 278AN: 1420748Hom.: 0 Cov.: 30 AF XY: 0.000191 AC XY: 134AN XY: 702184
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 10, 2023 | The c.794A>G (p.Q265R) alteration is located in exon 6 (coding exon 5) of the TMEM45B gene. This alteration results from a A to G substitution at nucleotide position 794, causing the glutamine (Q) at amino acid position 265 to be replaced by an arginine (R). 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