rs221

chr7-101381867-C-T

Variant summary

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

The NM_001278563.3(COL26A1):c.158+18677C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.377 in 151,744 control chromosomes in the GnomAD database, including 13,297 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 0.38 (13297 hom., cov: 31)
• Consequence: COL26A1 NM_001278563.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.80

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=-0.98).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.522 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
COL26A1	NM_001278563.3	c.158+18677C>T		intron_variant		ENST00000313669.12

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
COL26A1	ENST00000313669.12	c.158+18677C>T		intron_variant		1	NM_001278563.3	P4
COL26A1	ENST00000613501.1	c.158+18677C>T		intron_variant		1		A1

Frequencies

GnomAD3 genomes AF: 0.377 AC: 57199 AN: 151626 Hom.: 13301 Cov.: 31

Gnomad AFR AF: 0.0915

Gnomad AMI AF: 0.606

Gnomad AMR AF: 0.532

Gnomad ASJ AF: 0.446

Gnomad EAS AF: 0.328

Gnomad SAS AF: 0.489

Gnomad FIN AF: 0.502

Gnomad MID AF: 0.544

Gnomad NFE AF: 0.485

Gnomad OTH AF: 0.389

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

GnomAD4 genome AF: 0.377 AC: 57185 AN: 151744 Hom.: 13297 Cov.: 31 AF XY: 0.382 AC XY: 28320 AN XY: 74118

Gnomad4 AFR AF: 0.0911

Gnomad4 AMR AF: 0.532

Gnomad4 ASJ AF: 0.446

Gnomad4 EAS AF: 0.328

Gnomad4 SAS AF: 0.489

Gnomad4 FIN AF: 0.502

Gnomad4 NFE AF: 0.485

Gnomad4 OTH AF: 0.387

Alfa AF: 0.424 Hom.: 1923

Bravo AF: 0.364

Asia WGS AF: 0.398 AC: 1386 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
Cadd	Benign	0.80
Dann	Benign	0.81

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: rs221; hg19: chr7-101025148;