10-122841998-T-C

Variant names:

• chr10-122841998-T-C
• rs2950366
• NM_022034.6:c.83-670A>G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_022034.6(CUZD1):​c.83-670A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.443 in 151,678 control chromosomes in the GnomAD database, including 14,997 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.44 (14997 hom., cov: 31)
• Consequence: CUZD1 NM_022034.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.284

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]

ENSG00000286088 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.67).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.51 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CUZD1	NM_022034.6	c.83-670A>G		intron_variant	Intron 1 of 8	ENST00000392790.6	NP_071317.2
CUZD1	NR_037912.2	n.97-2767A>G		intron_variant	Intron 1 of 7
FAM24B-CUZD1	NR_037915.1	n.759-670A>G		intron_variant	Intron 3 of 10

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CUZD1	ENST00000392790.6	c.83-670A>G		intron_variant	Intron 1 of 8	1	NM_022034.6	ENSP00000376540.1
ENSG00000286088	ENST00000368904.6	n.83-670A>G		intron_variant	Intron 2 of 9	1		ENSP00000357900.2

Frequencies

GnomAD3 genomes AF: 0.443 AC: 67109 AN: 151560 Hom.: 14990 Cov.: 31

Gnomad AFR AF: 0.427

Gnomad AMI AF: 0.308

Gnomad AMR AF: 0.489

Gnomad ASJ AF: 0.463

Gnomad EAS AF: 0.472

Gnomad SAS AF: 0.526

Gnomad FIN AF: 0.357

Gnomad MID AF: 0.522

Gnomad NFE AF: 0.447

Gnomad OTH AF: 0.455

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.443 AC: 67142 AN: 151678 Hom.: 14997 Cov.: 31 AF XY: 0.441 AC XY: 32708 AN XY: 74100

Gnomad4 AFR AF: 0.427

Gnomad4 AMR AF: 0.489

Gnomad4 ASJ AF: 0.463

Gnomad4 EAS AF: 0.470

Gnomad4 SAS AF: 0.527

Gnomad4 FIN AF: 0.357

Gnomad4 NFE AF: 0.447

Gnomad4 OTH AF: 0.457

Alfa AF: 0.449 Hom.: 1946

Bravo AF: 0.453

Asia WGS AF: 0.504 AC: 1754 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.67
CADD	Benign	14
DANN	Benign	0.94

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: rs2950366; hg19: chr10-124601514;