rs2181038

Variant names:

• chr9-101861161-A-C
• rs2181038

Your query was ambiguous. Multiple possible variants found:

• chr9-101861161-A-C
• chr9-101861161-A-G
• chr9-101861161-A-T

Variant summary

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

The variant allele was found at a frequency of 0.751 in 152,114 control chromosomes in the GnomAD database, including 43,094 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 0.75 (43094 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.62

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.863 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.751 AC: 114177 AN: 151996 Hom.: 43051 Cov.: 32

Gnomad AFR AF: 0.784

Gnomad AMI AF: 0.804

Gnomad AMR AF: 0.768

Gnomad ASJ AF: 0.749

Gnomad EAS AF: 0.884

Gnomad SAS AF: 0.671

Gnomad FIN AF: 0.632

Gnomad MID AF: 0.684

Gnomad NFE AF: 0.741

Gnomad OTH AF: 0.764

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

GnomAD4 genome AF: 0.751 AC: 114276 AN: 152114 Hom.: 43094 Cov.: 32 AF XY: 0.746 AC XY: 55489 AN XY: 74350

African (AFR) AF: 0.784 AC: 32549 AN: 41506

American (AMR) AF: 0.768 AC: 11731 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.749 AC: 2601 AN: 3472

East Asian (EAS) AF: 0.884 AC: 4564 AN: 5160

South Asian (SAS) AF: 0.672 AC: 3238 AN: 4818

European-Finnish (FIN) AF: 0.632 AC: 6685 AN: 10576

Middle Eastern (MID) AF: 0.684 AC: 201 AN: 294

European-Non Finnish (NFE) AF: 0.741 AC: 50373 AN: 67990

Other (OTH) AF: 0.759 AC: 1602 AN: 2112

Alfa AF: 0.745 Hom.: 76855

Bravo AF: 0.770

Asia WGS AF: 0.764 AC: 2661 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	0.038
DANN	Benign	0.45
PhyloP100		-1.6

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs2181038; hg19: chr9-104623443;