chr6-44275862-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001137560.2(TMEM151B):c.1036G>A(p.Gly346Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000649 in 1,541,476 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001137560.2 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 |
---|---|---|---|---|---|---|---|
TMEM151B | NM_001137560.2 | c.1036G>A | p.Gly346Ser | missense_variant | 3/3 | ENST00000451188.7 | |
POLR1C | NM_001318876.2 | c.946-166028G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM151B | ENST00000451188.7 | c.1036G>A | p.Gly346Ser | missense_variant | 3/3 | 5 | NM_001137560.2 | P1 | |
TMEM151B | ENST00000438774.2 | c.576+2356G>A | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152080Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000648 AC: 9AN: 1389396Hom.: 0 Cov.: 33 AF XY: 0.00000875 AC XY: 6AN XY: 685332
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152080Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 20, 2023 | The c.1036G>A (p.G346S) alteration is located in exon 3 (coding exon 3) of the TMEM151B gene. This alteration results from a G to A substitution at nucleotide position 1036, causing the glycine (G) at amino acid position 346 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