10-122836358-GAAAAA-GAAAAAA

Position:

• chr10-122836358-GAAAAA-GAAAAAA

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_022034.6(CUZD1):​c.818-9dupT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.000028 (0 hom., cov: 0)
  • Exomes 𝑓: 0.0013 (0 hom.)
• Consequence: CUZD1 NM_022034.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.32

Genes affected

CUZD1 (HGNC:17937): (CUB and zona pellucida like domains 1) Predicted to be involved in trypsinogen activation. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

CUZD1 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CUZD1	NM_022034.6	c.818-9dupT		intron_variant		ENST00000392790.6	NP_071317.2
CUZD1	NR_037912.2	n.681-9dupT		intron_variant
FAM24B-CUZD1	NR_037915.1	n.1494-9dupT		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CUZD1	ENST00000392790.6	c.818-9dupT		intron_variant		1	NM_022034.6	ENSP00000376540.1
ENSG00000286088	ENST00000368904.6	n.818-9dupT		intron_variant		1		ENSP00000357900.2

Frequencies

GnomAD3 genomes AF: 0.0000284 AC: 4 AN: 141020 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.0000784

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000154

Gnomad OTH AF: 0.00

GnomAD3 exomes AF: 0.00179 AC: 127 AN: 71052 Hom.: 0 AF XY: 0.00177 AC XY: 69 AN XY: 38914

Gnomad AFR exome AF: 0.00273

Gnomad AMR exome AF: 0.00205

Gnomad ASJ exome AF: 0.00327

Gnomad EAS exome AF: 0.00291

Gnomad SAS exome AF: 0.00230

Gnomad FIN exome AF: 0.000691

Gnomad NFE exome AF: 0.00150

Gnomad OTH exome AF: 0.00133

GnomAD4 exome AF: 0.00131 AC: 1389 AN: 1060812 Hom.: 0 Cov.: 0 AF XY: 0.00134 AC XY: 696 AN XY: 520322

Gnomad4 AFR exome AF: 0.00127

Gnomad4 AMR exome AF: 0.00165

Gnomad4 ASJ exome AF: 0.00114

Gnomad4 EAS exome AF: 0.000655

Gnomad4 SAS exome AF: 0.00291

Gnomad4 FIN exome AF: 0.000895

Gnomad4 NFE exome AF: 0.00126

Gnomad4 OTH exome AF: 0.00111

GnomAD4 genome AF: 0.0000284 AC: 4 AN: 141020 Hom.: 0 Cov.: 0 AF XY: 0.0000294 AC XY: 2 AN XY: 67994

Gnomad4 AFR AF: 0.0000784

Gnomad4 AMR AF: 0.00

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.0000154

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs11365591; hg19: chr10-124595874;