rs10266177

chr7-150758207-G-A

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.532

Gnomad4 AMR AF: 0.606

Gnomad4 ASJ AF: 0.382

Gnomad4 EAS AF: 0.627

Gnomad4 SAS AF: 0.414

Gnomad4 FIN AF: 0.578

Gnomad4 NFE AF: 0.446

Gnomad4 OTH AF: 0.479

Alfa AF: 0.464 Hom.: 16326

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10266177; hg19: chr7-150455295;