rs7919766

Variant names:

• chr10-44501863-G-A
• rs7919766

Your query was ambiguous. Multiple possible variants found:

• chr10-44501863-G-A
• chr10-44501863-G-T

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 0.821 in 152,148 control chromosomes in the GnomAD database, including 51,375 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 0.82 (51375 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.746

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.854 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: 0.821 AC: 124865 AN: 152030 Hom.: 51333 Cov.: 32

Gnomad AFR AF: 0.777

Gnomad AMI AF: 0.834

Gnomad AMR AF: 0.866

Gnomad ASJ AF: 0.784

Gnomad EAS AF: 0.769

Gnomad SAS AF: 0.792

Gnomad FIN AF: 0.855

Gnomad MID AF: 0.835

Gnomad NFE AF: 0.840

Gnomad OTH AF: 0.840

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

GnomAD4 genome AF: 0.821 AC: 124963 AN: 152148 Hom.: 51375 Cov.: 32 AF XY: 0.824 AC XY: 61289 AN XY: 74398

Gnomad4 AFR AF: 0.777

Gnomad4 AMR AF: 0.866

Gnomad4 ASJ AF: 0.784

Gnomad4 EAS AF: 0.769

Gnomad4 SAS AF: 0.790

Gnomad4 FIN AF: 0.855

Gnomad4 NFE AF: 0.840

Gnomad4 OTH AF: 0.841

Alfa AF: 0.832 Hom.: 7508

Bravo AF: 0.820

Asia WGS AF: 0.778 AC: 2707 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.88
DANN	Benign	0.77

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7919766; hg19: chr10-44997311;