rs266098

Variant names:

• chr10-44366220-A-C
• rs266098

Your query was ambiguous. Multiple possible variants found:

• chr10-44366220-A-C
• chr10-44366220-A-G
• chr10-44366220-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 0.837 in 152,008 control chromosomes in the GnomAD database, including 53,589 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 0.84 (53589 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.02
• Publications: 2 publications found

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 (AMR) allele frequency at 95% confidence interval = 0.901 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: 0.837 AC: 127155 AN: 151892 Hom.: 53540 Cov.: 30

Gnomad AFR AF: 0.734

Gnomad AMI AF: 0.848

Gnomad AMR AF: 0.913

Gnomad ASJ AF: 0.850

Gnomad EAS AF: 0.862

Gnomad SAS AF: 0.856

Gnomad FIN AF: 0.934

Gnomad MID AF: 0.848

Gnomad NFE AF: 0.863

Gnomad OTH AF: 0.867

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

GnomAD4 genome AF: 0.837 AC: 127258 AN: 152008 Hom.: 53589 Cov.: 30 AF XY: 0.842 AC XY: 62588 AN XY: 74302

African (AFR) AF: 0.735 AC: 30417 AN: 41410

American (AMR) AF: 0.913 AC: 13959 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.850 AC: 2952 AN: 3472

East Asian (EAS) AF: 0.861 AC: 4437 AN: 5152

South Asian (SAS) AF: 0.855 AC: 4121 AN: 4820

European-Finnish (FIN) AF: 0.934 AC: 9889 AN: 10586

Middle Eastern (MID) AF: 0.863 AC: 252 AN: 292

European-Non Finnish (NFE) AF: 0.862 AC: 58622 AN: 67968

Other (OTH) AF: 0.869 AC: 1836 AN: 2112

Alfa AF: 0.851 Hom.: 22958

Bravo AF: 0.832

Asia WGS AF: 0.839 AC: 2917 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	0.13
DANN	Benign	0.53
PhyloP100		-2.0
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

Other links and lift over

dbSNP: rs266098; hg19: chr10-44861668;