rs10775390

Variant names:

• chr17-11048185-G-A
• rs10775390

Your query was ambiguous. Multiple possible variants found:

• chr17-11048185-G-A
• chr17-11048185-G-C
• chr17-11048185-G-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 0.76 in 152,070 control chromosomes in the GnomAD database, including 46,365 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 (46365 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.226
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.939 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: 0.760 AC: 115496 AN: 151952 Hom.: 46358 Cov.: 31

Gnomad AFR AF: 0.468

Gnomad AMI AF: 0.865

Gnomad AMR AF: 0.842

Gnomad ASJ AF: 0.869

Gnomad EAS AF: 0.961

Gnomad SAS AF: 0.842

Gnomad FIN AF: 0.857

Gnomad MID AF: 0.785

Gnomad NFE AF: 0.875

Gnomad OTH AF: 0.773

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

GnomAD4 genome AF: 0.760 AC: 115522 AN: 152070 Hom.: 46365 Cov.: 31 AF XY: 0.762 AC XY: 56644 AN XY: 74364

African (AFR) AF: 0.467 AC: 19342 AN: 41406

American (AMR) AF: 0.842 AC: 12859 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.869 AC: 3016 AN: 3470

East Asian (EAS) AF: 0.961 AC: 4977 AN: 5178

South Asian (SAS) AF: 0.843 AC: 4063 AN: 4818

European-Finnish (FIN) AF: 0.857 AC: 9079 AN: 10600

Middle Eastern (MID) AF: 0.772 AC: 227 AN: 294

European-Non Finnish (NFE) AF: 0.875 AC: 59536 AN: 68008

Other (OTH) AF: 0.774 AC: 1634 AN: 2110

Alfa AF: 0.838 Hom.: 68735

Bravo AF: 0.748

Asia WGS AF: 0.872 AC: 3034 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.3
DANN	Benign	0.63
PhyloP100		0.23

Splicing

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

Other links and lift over

dbSNP: rs10775390; hg19: chr17-10951502;