rs402710
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_030782.5(CLPTM1L):c.1532+9G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000743 in 1,345,936 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_030782.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLPTM1L | NM_030782.5 | c.1532+9G>C | intron_variant | Intron 16 of 16 | ENST00000320895.10 | NP_110409.2 | ||
CLPTM1L | XM_011514144.3 | c.1529+9G>C | intron_variant | Intron 16 of 16 | XP_011512446.1 | |||
CLPTM1L | XM_024446222.2 | c.998+9G>C | intron_variant | Intron 14 of 14 | XP_024301990.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 7.43e-7 AC: 1AN: 1345936Hom.: 0 Cov.: 23 AF XY: 0.00000151 AC XY: 1AN XY: 660318
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.