chr6-44270780-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001137560.2(TMEM151B):c.38C>G(p.Ala13Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000117 in 1,115,474 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMEM151B | NM_001137560.2 | c.38C>G | p.Ala13Gly | missense_variant | 1/3 | ENST00000451188.7 | |
POLR1C | NM_001318876.2 | c.946-171110C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM151B | ENST00000451188.7 | c.38C>G | p.Ala13Gly | missense_variant | 1/3 | 5 | NM_001137560.2 | P1 | |
TMEM151B | ENST00000438774.2 | c.38C>G | p.Ala13Gly | missense_variant | 1/3 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000344 AC: 5AN: 145332Hom.: 0 Cov.: 27
GnomAD4 exome AF: 0.00000825 AC: 8AN: 970032Hom.: 0 Cov.: 20 AF XY: 0.00000876 AC XY: 4AN XY: 456748
GnomAD4 genome ? AF: 0.0000344 AC: 5AN: 145442Hom.: 0 Cov.: 27 AF XY: 0.0000422 AC XY: 3AN XY: 71054
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 24, 2023 | The c.38C>G (p.A13G) alteration is located in exon 1 (coding exon 1) of the TMEM151B gene. This alteration results from a C to G substitution at nucleotide position 38, causing the alanine (A) at amino acid position 13 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