18-625004-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001393344.1(CLUL1):āc.395A>Cā(p.Gln132Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,614,196 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (ā ).
Frequency
Consequence
NM_001393344.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CLUL1 | NM_001393344.1 | c.395A>C | p.Gln132Pro | missense_variant | 5/10 | ENST00000692774.1 | |
LOC105371952 | XR_935082.4 | n.3675-258T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLUL1 | ENST00000692774.1 | c.395A>C | p.Gln132Pro | missense_variant | 5/10 | NM_001393344.1 | P1 | ||
ENST00000667928.1 | n.1489T>G | non_coding_transcript_exon_variant | 1/2 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152208Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000240 AC: 6AN: 249498Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135370
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461870Hom.: 0 Cov.: 34 AF XY: 0.0000124 AC XY: 9AN XY: 727238
GnomAD4 genome AF: 0.000125 AC: 19AN: 152326Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 06, 2022 | The c.395A>C (p.Q132P) alteration is located in exon 4 (coding exon 3) of the CLUL1 gene. This alteration results from a A to C substitution at nucleotide position 395, causing the glutamine (Q) at amino acid position 132 to be replaced by a proline (P). 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