chr6-44275850-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001137560.2(TMEM151B):c.1024A>G(p.Ser342Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000072 in 1,389,760 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/19 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.1024A>G | p.Ser342Gly | missense_variant | 3/3 | ENST00000451188.7 | |
POLR1C | NM_001318876.2 | c.946-166040A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM151B | ENST00000451188.7 | c.1024A>G | p.Ser342Gly | missense_variant | 3/3 | 5 | NM_001137560.2 | P1 | |
TMEM151B | ENST00000438774.2 | c.576+2344A>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 7.20e-7 AC: 1AN: 1389760Hom.: 0 Cov.: 33 AF XY: 0.00000146 AC XY: 1AN XY: 685564
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2023 | The c.1024A>G (p.S342G) alteration is located in exon 3 (coding exon 3) of the TMEM151B gene. This alteration results from a A to G substitution at nucleotide position 1024, causing the serine (S) at amino acid position 342 to be replaced by a glycine (G). 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
Publications
No publications associated with this variant yet.