10-122836358-GAAAAA-GAAA
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_022034.6(CUZD1):c.818-10_818-9delTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.177 in 1,095,246 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_022034.6 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CUZD1 | NM_022034.6 | c.818-10_818-9delTT | intron_variant | Intron 5 of 8 | ENST00000392790.6 | NP_071317.2 | ||
CUZD1 | NR_037912.2 | n.681-10_681-9delTT | intron_variant | Intron 4 of 7 | ||||
FAM24B-CUZD1 | NR_037915.1 | n.1494-10_1494-9delTT | intron_variant | Intron 7 of 10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CUZD1 | ENST00000392790.6 | c.818-10_818-9delTT | intron_variant | Intron 5 of 8 | 1 | NM_022034.6 | ENSP00000376540.1 | |||
ENSG00000286088 | ENST00000368904.6 | n.818-10_818-9delTT | intron_variant | Intron 6 of 9 | 1 | ENSP00000357900.2 |
Frequencies
GnomAD3 genomes AF: 0.00246 AC: 346AN: 140904Hom.: 0 Cov.: 0
GnomAD3 exomes AF: 0.296 AC: 21034AN: 71052Hom.: 0 AF XY: 0.293 AC XY: 11415AN XY: 38914
GnomAD4 exome AF: 0.203 AC: 194023AN: 954342Hom.: 0 AF XY: 0.206 AC XY: 96276AN XY: 468494
GnomAD4 genome AF: 0.00249 AC: 351AN: 140904Hom.: 0 Cov.: 0 AF XY: 0.00324 AC XY: 220AN XY: 67952
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at