7-151082188-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001136044.2(TMUB1):c.376G>A(p.Gly126Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000221 in 1,359,472 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001136044.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMUB1 | NM_001136044.2 | c.376G>A | p.Gly126Ser | missense_variant | Exon 2 of 3 | ENST00000297533.9 | NP_001129516.1 | |
TMUB1 | NM_031434.4 | c.376G>A | p.Gly126Ser | missense_variant | Exon 2 of 3 | NP_113622.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000221 AC: 3AN: 1359472Hom.: 0 Cov.: 31 AF XY: 0.00000301 AC XY: 2AN XY: 665162
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.376G>A (p.G126S) alteration is located in exon 2 (coding exon 1) of the TMUB1 gene. This alteration results from a G to A substitution at nucleotide position 376, causing the glycine (G) at amino acid position 126 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