10-122836358-GAAAAA-GAAAAAAA

Position:

• chr10-122836358-GAAAAA-GAAAAAAA

Variant summary

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

The NM_022034.6(CUZD1):​c.818-9_818-8insTT variant causes a splice polypyrimidine tract, 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 0.0000071 (0 hom., cov: 0)
  • Exomes 𝑓: 0.000048 (0 hom.)
• Consequence: CUZD1 NM_022034.6 splice_polypyrimidine_tract, 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]

FAM24B-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.818-9_818-8insTT		splice_polypyrimidine_tract_variant, intron_variant		ENST00000392790.6	NP_071317.2
FAM24B-CUZD1	NR_037915.1	n.1494-9_1494-8insTT		splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant
CUZD1	NR_037912.2	n.681-9_681-8insTT		splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CUZD1	ENST00000392790.6	c.818-9_818-8insTT		splice_polypyrimidine_tract_variant, intron_variant		1	NM_022034.6	ENSP00000376540	P1

Frequencies

GnomAD3 genomes AF: 0.00000709 AC: 1 AN: 141020 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00

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: 0.000125

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

GnomAD4 exome AF: 0.0000478 AC: 51 AN: 1067316 Hom.: 0 Cov.: 0 AF XY: 0.0000459 AC XY: 24 AN XY: 523446

Gnomad4 AFR exome AF: 0.0000452

Gnomad4 AMR exome AF: 0.000122

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.000172

Gnomad4 SAS exome AF: 0.000107

Gnomad4 FIN exome AF: 0.000119

Gnomad4 NFE exome AF: 0.0000386

Gnomad4 OTH exome AF: 0.0000225

GnomAD4 genome AF: 0.00000709 AC: 1 AN: 141020 Hom.: 0 Cov.: 0 AF XY: 0.0000147 AC XY: 1 AN XY: 67992

Gnomad4 AFR AF: 0.00

Gnomad4 AMR AF: 0.00

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.000125

Gnomad4 NFE AF: 0.00

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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;