11-35068797-A-G

Variant names:

• chr11-35068797-A-G
• rs675970

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 0.666 in 152,122 control chromosomes in the GnomAD database, including 34,849 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 0.67 (34849 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.608

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.825 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: 0.666 AC: 101284 AN: 152004 Hom.: 34799 Cov.: 33

Gnomad AFR AF: 0.832

Gnomad AMI AF: 0.570

Gnomad AMR AF: 0.668

Gnomad ASJ AF: 0.643

Gnomad EAS AF: 0.790

Gnomad SAS AF: 0.781

Gnomad FIN AF: 0.545

Gnomad MID AF: 0.734

Gnomad NFE AF: 0.568

Gnomad OTH AF: 0.678

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

GnomAD4 genome AF: 0.666 AC: 101387 AN: 152122 Hom.: 34849 Cov.: 33 AF XY: 0.669 AC XY: 49776 AN XY: 74360

Gnomad4 AFR AF: 0.832

Gnomad4 AMR AF: 0.668

Gnomad4 ASJ AF: 0.643

Gnomad4 EAS AF: 0.789

Gnomad4 SAS AF: 0.780

Gnomad4 FIN AF: 0.545

Gnomad4 NFE AF: 0.568

Gnomad4 OTH AF: 0.680

Alfa AF: 0.541 Hom.: 2311

Bravo AF: 0.679

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	1.3
DANN	Benign	0.78

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs675970; hg19: chr11-35090344;