18-373670-C-T

Variant names:

• chr18-373670-C-T
• rs9945820
• NM_130386.3:c.59-16148G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_130386.3(COLEC12):​c.59-16148G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.212 in 152,038 control chromosomes in the GnomAD database, including 3,628 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 0.21 (3628 hom., cov: 32)
• Consequence: COLEC12 NM_130386.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.294
• Publications: 2 publications found

Genes affected

COLEC12 (HGNC:16016): (collectin subfamily member 12) This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, May 2018]

LOC107985155 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.289 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_130386.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	COLEC12	NM_130386.3	MANE Select	c.59-16148G>A		intron	N/A	NP_569057.2	Q5KU26

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	COLEC12	ENST00000400256.5	TSL:1 MANE Select	c.59-16148G>A		intron	N/A	ENSP00000383115.3	Q5KU26
	COLEC12	ENST00000851798.1		c.8-16148G>A		intron	N/A	ENSP00000521857.1
	COLEC12	ENST00000851799.1		c.59-16148G>A		intron	N/A	ENSP00000521858.1

Frequencies

GnomAD3 genomes AF: 0.212 AC: 32258 AN: 151920 Hom.: 3619 Cov.: 32

Gnomad AFR AF: 0.230

Gnomad AMI AF: 0.160

Gnomad AMR AF: 0.295

Gnomad ASJ AF: 0.174

Gnomad EAS AF: 0.0218

Gnomad SAS AF: 0.0576

Gnomad FIN AF: 0.236

Gnomad MID AF: 0.263

Gnomad NFE AF: 0.207

Gnomad OTH AF: 0.222

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

GnomAD4 genome AF: 0.212 AC: 32295 AN: 152038 Hom.: 3628 Cov.: 32 AF XY: 0.211 AC XY: 15655 AN XY: 74326

African (AFR) AF: 0.230 AC: 9545 AN: 41454

American (AMR) AF: 0.296 AC: 4517 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.174 AC: 603 AN: 3470

East Asian (EAS) AF: 0.0220 AC: 114 AN: 5180

South Asian (SAS) AF: 0.0579 AC: 279 AN: 4820

European-Finnish (FIN) AF: 0.236 AC: 2490 AN: 10562

Middle Eastern (MID) AF: 0.272 AC: 80 AN: 294

European-Non Finnish (NFE) AF: 0.207 AC: 14057 AN: 67964

Other (OTH) AF: 0.220 AC: 464 AN: 2110

Alfa AF: 0.209 Hom.: 10435

Bravo AF: 0.223

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	5.1
DANN	Benign	0.60
PhyloP100		-0.29
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs9945820; hg19: chr18-373670;