rs13233066

chr7-101445416-G-Achr7-101445416-G-Cchr7-101445416-G-T

Variant summary

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

The NM_001278563.3(COL26A1):c.282-2268G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.406 in 151,686 control chromosomes in the GnomAD database, including 14,948 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 0.41 (14948 hom., cov: 30)
• Consequence: COL26A1 NM_001278563.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.289

Genes affected

COL26A1 (HGNC:18038): (collagen type XXVI alpha 1 chain) This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.542 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
COL26A1	NM_001278563.3	c.282-2268G>A		intron_variant		ENST00000313669.12

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
COL26A1	ENST00000313669.12	c.282-2268G>A		intron_variant		1	NM_001278563.3	P4
COL26A1	ENST00000613501.1	c.282-2274G>A		intron_variant		1		A1

Frequencies

GnomAD3 genomes AF: 0.406 AC: 61538 AN: 151568 Hom.: 14947 Cov.: 30

Gnomad AFR AF: 0.131

Gnomad AMI AF: 0.707

Gnomad AMR AF: 0.551

Gnomad ASJ AF: 0.495

Gnomad EAS AF: 0.380

Gnomad SAS AF: 0.512

Gnomad FIN AF: 0.466

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.516

Gnomad OTH AF: 0.442

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

GnomAD4 genome AF: 0.406 AC: 61546 AN: 151686 Hom.: 14948 Cov.: 30 AF XY: 0.406 AC XY: 30099 AN XY: 74100

Gnomad4 AFR AF: 0.130

Gnomad4 AMR AF: 0.552

Gnomad4 ASJ AF: 0.495

Gnomad4 EAS AF: 0.381

Gnomad4 SAS AF: 0.511

Gnomad4 FIN AF: 0.466

Gnomad4 NFE AF: 0.516

Gnomad4 OTH AF: 0.443

Alfa AF: 0.337 Hom.: 1109

Bravo AF: 0.400

Asia WGS AF: 0.452 AC: 1573 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
Cadd	Benign	2.4
Dann	Benign	0.35

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: rs13233066; hg19: chr7-101088697;