rs7911065

Variant names:

• chr10-61270991-G-A
• rs7911065

Your query was ambiguous. Multiple possible variants found:

• chr10-61270991-G-A
• chr10-61270991-G-C

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 0.649 in 151,996 control chromosomes in the GnomAD database, including 33,556 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 0.65 (33556 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.754
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.834 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: 0.649 AC: 98520 AN: 151878 Hom.: 33500 Cov.: 31

Gnomad AFR AF: 0.841

Gnomad AMI AF: 0.558

Gnomad AMR AF: 0.674

Gnomad ASJ AF: 0.518

Gnomad EAS AF: 0.819

Gnomad SAS AF: 0.706

Gnomad FIN AF: 0.417

Gnomad MID AF: 0.655

Gnomad NFE AF: 0.553

Gnomad OTH AF: 0.622

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

GnomAD4 genome AF: 0.649 AC: 98635 AN: 151996 Hom.: 33556 Cov.: 31 AF XY: 0.646 AC XY: 48011 AN XY: 74266

African (AFR) AF: 0.841 AC: 34895 AN: 41478

American (AMR) AF: 0.675 AC: 10301 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.518 AC: 1797 AN: 3470

East Asian (EAS) AF: 0.818 AC: 4233 AN: 5172

South Asian (SAS) AF: 0.706 AC: 3400 AN: 4818

European-Finnish (FIN) AF: 0.417 AC: 4393 AN: 10530

Middle Eastern (MID) AF: 0.656 AC: 193 AN: 294

European-Non Finnish (NFE) AF: 0.553 AC: 37601 AN: 67948

Other (OTH) AF: 0.624 AC: 1315 AN: 2108

Alfa AF: 0.593 Hom.: 15237

Bravo AF: 0.678

Asia WGS AF: 0.776 AC: 2696 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.25
DANN	Benign	0.48
PhyloP100		-0.75

Splicing

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

Other links and lift over

dbSNP: rs7911065; hg19: chr10-63030749;