11-62787453-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_199337.3(TMEM179B):c.22C>A(p.Arg8Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000516 in 1,569,500 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_199337.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152256Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000160 AC: 29AN: 181086Hom.: 0 AF XY: 0.000198 AC XY: 20AN XY: 101230
GnomAD4 exome AF: 0.0000529 AC: 75AN: 1417244Hom.: 0 Cov.: 31 AF XY: 0.0000740 AC XY: 52AN XY: 702712
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152256Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74386
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.22C>A (p.R8S) alteration is located in exon 1 (coding exon 1) of the TMEM179B gene. This alteration results from a C to A substitution at nucleotide position 22, causing the arginine (R) at amino acid position 8 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