NM_130386.3:c.2064-715G>A

Variant names:

• chr18-322522-C-T
• rs621636
• NM_130386.3:c.2064-715G>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.2064-715G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.179 in 152,194 control chromosomes in the GnomAD database, including 3,013 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 0.18 (3013 hom., cov: 32)
• Consequence: COLEC12 NM_130386.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.444
• Publications: 12 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]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.337 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
COLEC12	NM_130386.3	c.2064-715G>A		intron_variant	Intron 8 of 9	ENST00000400256.5	NP_569057.2
COLEC12	XM_011525741.3	c.2013-715G>A		intron_variant	Intron 7 of 8		XP_011524043.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
COLEC12	ENST00000400256.5	c.2064-715G>A		intron_variant	Intron 8 of 9	1	NM_130386.3	ENSP00000383115.3
COLEC12	ENST00000582147.1	n.3870-715G>A		intron_variant	Intron 7 of 8	5

Frequencies

GnomAD3 genomes AF: 0.180 AC: 27316 AN: 152076 Hom.: 3015 Cov.: 32

Gnomad AFR AF: 0.0601

Gnomad AMI AF: 0.105

Gnomad AMR AF: 0.165

Gnomad ASJ AF: 0.173

Gnomad EAS AF: 0.350

Gnomad SAS AF: 0.283

Gnomad FIN AF: 0.172

Gnomad MID AF: 0.165

Gnomad NFE AF: 0.238

Gnomad OTH AF: 0.175

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

GnomAD4 genome AF: 0.179 AC: 27317 AN: 152194 Hom.: 3013 Cov.: 32 AF XY: 0.179 AC XY: 13325 AN XY: 74400

African (AFR) AF: 0.0601 AC: 2499 AN: 41554

American (AMR) AF: 0.165 AC: 2514 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.173 AC: 600 AN: 3472

East Asian (EAS) AF: 0.350 AC: 1811 AN: 5170

South Asian (SAS) AF: 0.283 AC: 1366 AN: 4824

European-Finnish (FIN) AF: 0.172 AC: 1822 AN: 10594

Middle Eastern (MID) AF: 0.153 AC: 45 AN: 294

European-Non Finnish (NFE) AF: 0.238 AC: 16195 AN: 67982

Other (OTH) AF: 0.175 AC: 369 AN: 2112

Alfa AF: 0.213 Hom.: 11429

Bravo AF: 0.171

Asia WGS AF: 0.264 AC: 914 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	1.4
DANN	Benign	0.60
PhyloP100		-0.44
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: rs621636; hg19: chr18-322522;