rs10266177

Variant names:

• chr7-150758207-G-A
• rs10266177

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 0.499 in 152,038 control chromosomes in the GnomAD database, including 19,290 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 0.50 (19290 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.609 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: 0.499 AC: 75762 AN: 151920 Hom.: 19259 Cov.: 32

Gnomad AFR AF: 0.532

Gnomad AMI AF: 0.437

Gnomad AMR AF: 0.606

Gnomad ASJ AF: 0.382

Gnomad EAS AF: 0.627

Gnomad SAS AF: 0.413

Gnomad FIN AF: 0.578

Gnomad MID AF: 0.404

Gnomad NFE AF: 0.446

Gnomad OTH AF: 0.476

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

GnomAD4 genome AF: 0.499 AC: 75855 AN: 152038 Hom.: 19290 Cov.: 32 AF XY: 0.504 AC XY: 37472 AN XY: 74324

African (AFR) AF: 0.532 AC: 22063 AN: 41470

American (AMR) AF: 0.606 AC: 9270 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.382 AC: 1326 AN: 3470

East Asian (EAS) AF: 0.627 AC: 3244 AN: 5174

South Asian (SAS) AF: 0.414 AC: 1996 AN: 4818

European-Finnish (FIN) AF: 0.578 AC: 6113 AN: 10580

Middle Eastern (MID) AF: 0.397 AC: 116 AN: 292

European-Non Finnish (NFE) AF: 0.446 AC: 30325 AN: 67936

Other (OTH) AF: 0.479 AC: 1007 AN: 2104

Alfa AF: 0.469 Hom.: 21545

Bravo AF: 0.509

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.68
DANN	Benign	0.28
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs10266177; hg19: chr7-150455295;