rs2298900

Variant names:

• chr1-169699879-G-A
• rs2298900
• NM_000655.5:c.1081+1681C>T

Your query was ambiguous. Multiple possible variants found:

• chr1-169699879-G-A
• chr1-169699879-G-T

Variant summary

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

The NM_000655.5(SELL):​c.1081+1681C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.763 in 152,022 control chromosomes in the GnomAD database, including 45,278 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 0.76 (45278 hom., cov: 30)
• Consequence: SELL NM_000655.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.214
• Publications: 6 publications found

Genes affected

SELL (HGNC:10720): (selectin L) This gene encodes a cell surface adhesion molecule that belongs to a family of adhesion/homing receptors. The encoded protein contains a C-type lectin-like domain, a calcium-binding epidermal growth factor-like domain, and two short complement-like repeats. The gene product is required for binding and subsequent rolling of leucocytes on endothelial cells, facilitating their migration into secondary lymphoid organs and inflammation sites. Single-nucleotide polymorphisms in this gene have been associated with various diseases including immunoglobulin A nephropathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]

FIRRM (HGNC:25565): (FIGNL1 interacting regulator of recombination and mitosis)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.931 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_000655.5. 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
	SELL	NM_000655.5	MANE Select	c.1081+1681C>T		intron	N/A	NP_000646.3	P14151-1
	SELL	NR_029467.2		n.1050+1681C>T		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SELL	ENST00000236147.6	TSL:1 MANE Select	c.1081+1681C>T		intron	N/A	ENSP00000236147.5	P14151-1
	SELL	ENST00000650983.1		c.1120+1681C>T		intron	N/A	ENSP00000498227.1	P14151-2
	SELL	ENST00000878074.1		c.1081+1681C>T		intron	N/A	ENSP00000548133.1

Frequencies

GnomAD3 genomes AF: 0.763 AC: 115938 AN: 151904 Hom.: 45223 Cov.: 30

Gnomad AFR AF: 0.939

Gnomad AMI AF: 0.663

Gnomad AMR AF: 0.776

Gnomad ASJ AF: 0.772

Gnomad EAS AF: 0.664

Gnomad SAS AF: 0.794

Gnomad FIN AF: 0.668

Gnomad MID AF: 0.908

Gnomad NFE AF: 0.673

Gnomad OTH AF: 0.778

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

GnomAD4 genome AF: 0.763 AC: 116055 AN: 152022 Hom.: 45278 Cov.: 30 AF XY: 0.763 AC XY: 56665 AN XY: 74292

African (AFR) AF: 0.939 AC: 38967 AN: 41502

American (AMR) AF: 0.776 AC: 11845 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.772 AC: 2679 AN: 3468

East Asian (EAS) AF: 0.664 AC: 3426 AN: 5156

South Asian (SAS) AF: 0.795 AC: 3817 AN: 4804

European-Finnish (FIN) AF: 0.668 AC: 7041 AN: 10540

Middle Eastern (MID) AF: 0.912 AC: 268 AN: 294

European-Non Finnish (NFE) AF: 0.673 AC: 45772 AN: 67974

Other (OTH) AF: 0.775 AC: 1635 AN: 2110

Alfa AF: 0.715 Hom.: 52981

Bravo AF: 0.778

Asia WGS AF: 0.712 AC: 2475 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.68
DANN	Benign	0.44
PhyloP100		-0.21
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: rs2298900; hg19: chr1-169669020;