10-122832343-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_022034.6(CUZD1):āc.1759A>Gā(p.Ile587Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000075 in 1,614,010 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_022034.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CUZD1 | NM_022034.6 | c.1759A>G | p.Ile587Val | missense_variant | 9/9 | ENST00000392790.6 | NP_071317.2 | |
CUZD1 | NR_037912.2 | n.1622A>G | non_coding_transcript_exon_variant | 8/8 | ||||
FAM24B-CUZD1 | NR_037915.1 | n.2435A>G | non_coding_transcript_exon_variant | 11/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CUZD1 | ENST00000392790.6 | c.1759A>G | p.Ile587Val | missense_variant | 9/9 | 1 | NM_022034.6 | ENSP00000376540.1 | ||
ENSG00000286088 | ENST00000368904.6 | n.*920A>G | non_coding_transcript_exon_variant | 10/10 | 1 | ENSP00000357900.2 | ||||
ENSG00000286088 | ENST00000368904.6 | n.*920A>G | 3_prime_UTR_variant | 10/10 | 1 | ENSP00000357900.2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251434Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135882
GnomAD4 exome AF: 0.0000807 AC: 118AN: 1461804Hom.: 0 Cov.: 30 AF XY: 0.0000646 AC XY: 47AN XY: 727206
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152206Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 26, 2023 | The c.1759A>G (p.I587V) alteration is located in exon 9 (coding exon 9) of the CUZD1 gene. This alteration results from a A to G substitution at nucleotide position 1759, causing the isoleucine (I) at amino acid position 587 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