12-50167204-G-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_147190.5(CERS5):c.94C>G(p.Leu32Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000174 in 1,607,464 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. 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 Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CERS5 | NM_147190.5 | c.94C>G | p.Leu32Val | missense_variant | 1/10 | ENST00000317551.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CERS5 | ENST00000317551.12 | c.94C>G | p.Leu32Val | missense_variant | 1/10 | 2 | NM_147190.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000217 AC: 33AN: 152026Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000345 AC: 82AN: 237952Hom.: 0 AF XY: 0.000336 AC XY: 44AN XY: 130836
GnomAD4 exome AF: 0.000170 AC: 247AN: 1455438Hom.: 1 Cov.: 31 AF XY: 0.000182 AC XY: 132AN XY: 724342
GnomAD4 genome ? AF: 0.000217 AC: 33AN: 152026Hom.: 1 Cov.: 32 AF XY: 0.000229 AC XY: 17AN XY: 74262
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 03, 2022 | The c.94C>G (p.L32V) alteration is located in exon 1 (coding exon 1) of the CERS5 gene. This alteration results from a C to G substitution at nucleotide position 94, causing the leucine (L) at amino acid position 32 to be replaced by a valine (V). 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