rs10796849

Variant names:

• chr11-69787644-C-G
• rs10796849

Your query was ambiguous. Multiple possible variants found:

• chr11-69787644-C-G
• chr11-69787644-C-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 0.692 in 152,026 control chromosomes in the GnomAD database, including 39,470 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 0.69 (39470 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.437
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.849 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.692 AC: 105109 AN: 151908 Hom.: 39474 Cov.: 32

Gnomad AFR AF: 0.403

Gnomad AMI AF: 0.954

Gnomad AMR AF: 0.624

Gnomad ASJ AF: 0.821

Gnomad EAS AF: 0.571

Gnomad SAS AF: 0.680

Gnomad FIN AF: 0.862

Gnomad MID AF: 0.848

Gnomad NFE AF: 0.855

Gnomad OTH AF: 0.725

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

GnomAD4 genome AF: 0.692 AC: 105126 AN: 152026 Hom.: 39470 Cov.: 32 AF XY: 0.691 AC XY: 51305 AN XY: 74294

African (AFR) AF: 0.402 AC: 16673 AN: 41430

American (AMR) AF: 0.624 AC: 9523 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.821 AC: 2848 AN: 3468

East Asian (EAS) AF: 0.570 AC: 2919 AN: 5120

South Asian (SAS) AF: 0.680 AC: 3277 AN: 4822

European-Finnish (FIN) AF: 0.862 AC: 9133 AN: 10600

Middle Eastern (MID) AF: 0.850 AC: 250 AN: 294

European-Non Finnish (NFE) AF: 0.854 AC: 58112 AN: 68008

Other (OTH) AF: 0.724 AC: 1521 AN: 2100

Alfa AF: 0.763 Hom.: 5809

Bravo AF: 0.662

Asia WGS AF: 0.640 AC: 2226 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.2
DANN	Benign	0.31
PhyloP100		-0.44

Splicing

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

Other links and lift over

dbSNP: rs10796849; hg19: chr11-69602412;