rs982274

chr21-18107413-G-T

Variant summary

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

The ENST00000400131.5(CHODL):c.-44-149096G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.357 in 152,066 control chromosomes in the GnomAD database, including 11,455 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 0.36 (11455 hom., cov: 32)
• Consequence: CHODL ENST00000400131.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.922

Genes affected

CHODL (HGNC:17807): (chondrolectin) This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.491 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CHODL	NM_001204175.2	c.-44-149096G>T		intron_variant
CHODL	NM_001204176.2	c.-45+79442G>T		intron_variant
CHODL	NM_001204177.2	c.-44-149096G>T		intron_variant
CHODL	NM_001204178.2	c.-45+79442G>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
	ENST00000432412.1	n.138+7354C>A		intron_variant, non_coding_transcript_variant		3

Frequencies

GnomAD3 genomes AF: 0.357 AC: 54268 AN: 151948 Hom.: 11459 Cov.: 32

Gnomad AFR AF: 0.161

Gnomad AMI AF: 0.476

Gnomad AMR AF: 0.367

Gnomad ASJ AF: 0.424

Gnomad EAS AF: 0.0275

Gnomad SAS AF: 0.235

Gnomad FIN AF: 0.394

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.496

Gnomad OTH AF: 0.404

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

GnomAD4 genome AF: 0.357 AC: 54260 AN: 152066 Hom.: 11455 Cov.: 32 AF XY: 0.350 AC XY: 25975 AN XY: 74318

Gnomad4 AFR AF: 0.161

Gnomad4 AMR AF: 0.367

Gnomad4 ASJ AF: 0.424

Gnomad4 EAS AF: 0.0272

Gnomad4 SAS AF: 0.234

Gnomad4 FIN AF: 0.394

Gnomad4 NFE AF: 0.496

Gnomad4 OTH AF: 0.398

Alfa AF: 0.467 Hom.: 16823

Bravo AF: 0.344

Asia WGS AF: 0.139 AC: 486 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
Cadd	Benign	0.30
Dann	Benign	0.24

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs982274; hg19: chr21-19479731;