rs994811

Positions:

• chr10-61735126-T-C

Variant summary

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

The NM_001366906.2(CABCOCO1):​c.553-24933T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.42 in 151,804 control chromosomes in the GnomAD database, including 15,610 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 0.42 (15610 hom., cov: 31)
• Consequence: CABCOCO1 NM_001366906.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0910

Genes affected

CABCOCO1 (HGNC:28678): (ciliary associated calcium binding coiled-coil 1) Predicted to enable calcium ion binding activity. Predicted to be located in centrosome; cytoplasm; and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.543 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CABCOCO1	NM_001366906.2	c.553-24933T>C		intron_variant		ENST00000648843.3	NP_001353835.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CABCOCO1	ENST00000648843.3	c.553-24933T>C		intron_variant			NM_001366906.2	ENSP00000496918
CABCOCO1	ENST00000330194.2	c.289-24933T>C		intron_variant		1		ENSP00000328698	P1

Frequencies

GnomAD3 genomes AF: 0.420 AC: 63715 AN: 151686 Hom.: 15603 Cov.: 31

Gnomad AFR AF: 0.170

Gnomad AMI AF: 0.572

Gnomad AMR AF: 0.490

Gnomad ASJ AF: 0.538

Gnomad EAS AF: 0.164

Gnomad SAS AF: 0.479

Gnomad FIN AF: 0.513

Gnomad MID AF: 0.532

Gnomad NFE AF: 0.547

Gnomad OTH AF: 0.464

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

GnomAD4 genome AF: 0.420 AC: 63737 AN: 151804 Hom.: 15610 Cov.: 31 AF XY: 0.421 AC XY: 31242 AN XY: 74194

Gnomad4 AFR AF: 0.170

Gnomad4 AMR AF: 0.490

Gnomad4 ASJ AF: 0.538

Gnomad4 EAS AF: 0.163

Gnomad4 SAS AF: 0.480

Gnomad4 FIN AF: 0.513

Gnomad4 NFE AF: 0.547

Gnomad4 OTH AF: 0.463

Alfa AF: 0.482 Hom.: 4360

Bravo AF: 0.407

Asia WGS AF: 0.317 AC: 1099 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	6.7
DANN	Benign	0.58

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: rs994811; hg19: chr10-63494884;