21-18090726-GAAAAAAAAAAAA-GAAAAAAAAAAAAAAA

Variant names:

• chr21-18090726-G-GAAA
• rs5842674
• ENST00000400131.5:c.-44-165783_-44-165782insAAA

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1 BS2

The NM_001204177.2(CHODL):​c.-44-165765_-44-165763dupAAA 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: 𝑓 0.0080 (41 hom., cov: 0)
• Consequence: CHODL NM_001204177.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.02

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]

ENSG00000227330 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BS1: Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00803 (1005/125102) while in subpopulation AFR AF= 0.0292 (941/32182). AF 95% confidence interval is 0.0277. There are 41 homozygotes in gnomad4. There are 480 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
• BS2: High Homozygotes in GnomAd4 at 41 AR gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CHODL	NM_001204177.2	c.-44-165765_-44-165763dupAAA		intron_variant	Intron 1 of 4		NP_001191106.1
CHODL	NM_001204178.2	c.-45+62773_-45+62775dupAAA		intron_variant	Intron 2 of 5		NP_001191107.1
CHODL	NM_001204175.2	c.-44-165765_-44-165763dupAAA		intron_variant	Intron 1 of 5		NP_001191104.1
CHODL	NM_001204176.2	c.-45+62773_-45+62775dupAAA		intron_variant	Intron 2 of 6		NP_001191105.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CHODL	ENST00000400131.5	c.-44-165783_-44-165782insAAA		intron_variant	Intron 1 of 4	1		ENSP00000382996.1
CHODL	ENST00000400135.5	c.-45+62755_-45+62756insAAA		intron_variant	Intron 2 of 5	1		ENSP00000383001.1
CHODL	ENST00000400127.5	c.-45+62755_-45+62756insAAA		intron_variant	Intron 2 of 6	1		ENSP00000382992.1

Frequencies

GnomAD3 genomes AF: 0.00802 AC: 1004 AN: 125118 Hom.: 41 Cov.: 0

Gnomad AFR AF: 0.0292

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00361

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.000278

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000224

Gnomad OTH AF: 0.00290

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

GnomAD4 genome AF: 0.00803 AC: 1005 AN: 125102 Hom.: 41 Cov.: 0 AF XY: 0.00808 AC XY: 480 AN XY: 59440

Gnomad4 AFR AF: 0.0292

Gnomad4 AMR AF: 0.00361

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.000280

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.000224

Gnomad4 OTH AF: 0.00289

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: rs5842674; hg19: chr21-19463044;