12-50137749-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_147190.5(CERS5):c.615G>C(p.Gln205His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000935 in 1,604,512 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_147190.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152026Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000722 AC: 18AN: 249168Hom.: 0 AF XY: 0.0000594 AC XY: 8AN XY: 134666
GnomAD4 exome AF: 0.00000826 AC: 12AN: 1452486Hom.: 0 Cov.: 27 AF XY: 0.00000691 AC XY: 5AN XY: 723076
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152026Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74240
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.615G>C (p.Q205H) alteration is located in exon 6 (coding exon 6) of the CERS5 gene. This alteration results from a G to C substitution at nucleotide position 615, causing the glutamine (Q) at amino acid position 205 to be replaced by a histidine (H). 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