7-151082485-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001136044.2(TMUB1):c.79G>T(p.Ala27Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000442 in 1,583,626 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A27V) has been classified 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.79G>T | p.Ala27Ser | missense_variant | Exon 2 of 3 | ENST00000297533.9 | NP_001129516.1 | |
TMUB1 | NM_031434.4 | c.79G>T | p.Ala27Ser | missense_variant | Exon 2 of 3 | NP_113622.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000445 AC: 1AN: 224506Hom.: 0 AF XY: 0.00000820 AC XY: 1AN XY: 122010
GnomAD4 exome AF: 0.00000279 AC: 4AN: 1431494Hom.: 0 Cov.: 31 AF XY: 0.00000563 AC XY: 4AN XY: 710396
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.79G>T (p.A27S) alteration is located in exon 2 (coding exon 1) of the TMUB1 gene. This alteration results from a G to T substitution at nucleotide position 79, causing the alanine (A) at amino acid position 27 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