rs10260737

Variant names:

• chr7-17665575-G-A
• rs10260737

Your query was ambiguous. Multiple possible variants found:

• chr7-17665575-G-A
• chr7-17665575-G-C

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 0.159 in 152,162 control chromosomes in the GnomAD database, including 3,493 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 0.16 (3493 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.206

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.382 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: 0.159 AC: 24168 AN: 152044 Hom.: 3478 Cov.: 32

Gnomad AFR AF: 0.386

Gnomad AMI AF: 0.104

Gnomad AMR AF: 0.0972

Gnomad ASJ AF: 0.0660

Gnomad EAS AF: 0.00135

Gnomad SAS AF: 0.0321

Gnomad FIN AF: 0.0386

Gnomad MID AF: 0.0791

Gnomad NFE AF: 0.0815

Gnomad OTH AF: 0.120

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

GnomAD4 genome AF: 0.159 AC: 24229 AN: 152162 Hom.: 3493 Cov.: 32 AF XY: 0.153 AC XY: 11390 AN XY: 74400

Gnomad4 AFR AF: 0.387

Gnomad4 AMR AF: 0.0969

Gnomad4 ASJ AF: 0.0660

Gnomad4 EAS AF: 0.00135

Gnomad4 SAS AF: 0.0328

Gnomad4 FIN AF: 0.0386

Gnomad4 NFE AF: 0.0815

Gnomad4 OTH AF: 0.119

Alfa AF: 0.0865 Hom.: 1644

Bravo AF: 0.174

Asia WGS AF: 0.0440 AC: 156 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	2.1
DANN	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10260737; hg19: chr7-17705199;