NM_022034.6:c.818-12_818-9dupTTTT

Variant names:

• chr10-122836358-G-GAAAA
• rs11365591
• NM_022034.6:c.818-12_818-9dupTTTT

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_022034.6(CUZD1):​c.818-12_818-9dupTTTT 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: not found (cov: 0)
  • Exomes 𝑓: 9.4e-7 (0 hom.)
• Consequence: CUZD1 NM_022034.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.32
• Publications: 0 publications found

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 Gene-Disease associations (from GenCC):

• schizophrenia

  Inheritance: Unknown Classification: NO_KNOWN Submitted by: Labcorp Genetics (formerly Invitae)

ENSG00000286088 (HGNC:):

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_022034.6. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CUZD1	NM_022034.6	MANE Select	c.818-12_818-9dupTTTT		intron	N/A	NP_071317.2
	CUZD1	NR_037912.2		n.681-12_681-9dupTTTT		intron	N/A
	FAM24B-CUZD1	NR_037915.1		n.1494-12_1494-9dupTTTT		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CUZD1	ENST00000392790.6	TSL:1 MANE Select	c.818-9_818-8insTTTT		intron	N/A	ENSP00000376540.1	Q86UP6-1
	CUZD1	ENST00000338948.3	TSL:1	n.83-1262_83-1261insTTTT		intron	N/A	ENSP00000340905.4	A0A0A0MRA6
	CUZD1	ENST00000368899.5	TSL:1	n.931-9_931-8insTTTT		intron	N/A

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome AF: 9.36e-7 AC: 1 AN: 1067812 Hom.: 0 Cov.: 0 AF XY: 0.00000191 AC XY: 1 AN XY: 523688

⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.00 AC: 0 AN: 22126

American (AMR) AF: 0.00 AC: 0 AN: 16390

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 16704

East Asian (EAS) AF: 0.00 AC: 0 AN: 29122

South Asian (SAS) AF: 0.00 AC: 0 AN: 46784

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 33658

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 3634

European-Non Finnish (NFE) AF: 0.00000117 AC: 1 AN: 854966

Other (OTH) AF: 0.00 AC: 0 AN: 44428

⚠️ The allele balance in gnomAD4 Exomes is highly skewed from 0.5 (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs11365591; hg19: chr10-124595874;