rs6591350

Variant names:

• chr11-68701202-A-G
• rs6591350

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 152,190 control chromosomes in the GnomAD database, including 37,209 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 (37209 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.13
• Publications: 12 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.839 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: 0.692 AC: 105266 AN: 152072 Hom.: 37184 Cov.: 33

Gnomad AFR AF: 0.565

Gnomad AMI AF: 0.718

Gnomad AMR AF: 0.719

Gnomad ASJ AF: 0.768

Gnomad EAS AF: 0.860

Gnomad SAS AF: 0.771

Gnomad FIN AF: 0.886

Gnomad MID AF: 0.652

Gnomad NFE AF: 0.711

Gnomad OTH AF: 0.694

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

GnomAD4 genome AF: 0.692 AC: 105339 AN: 152190 Hom.: 37209 Cov.: 33 AF XY: 0.702 AC XY: 52274 AN XY: 74434

African (AFR) AF: 0.565 AC: 23439 AN: 41480

American (AMR) AF: 0.720 AC: 10999 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.768 AC: 2666 AN: 3470

East Asian (EAS) AF: 0.860 AC: 4459 AN: 5186

South Asian (SAS) AF: 0.770 AC: 3723 AN: 4832

European-Finnish (FIN) AF: 0.886 AC: 9405 AN: 10612

Middle Eastern (MID) AF: 0.646 AC: 190 AN: 294

European-Non Finnish (NFE) AF: 0.711 AC: 48338 AN: 68012

Other (OTH) AF: 0.695 AC: 1467 AN: 2112

Alfa AF: 0.709 Hom.: 19580

Bravo AF: 0.671

Asia WGS AF: 0.807 AC: 2805 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.41
DANN	Benign	0.37
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs6591350; hg19: chr11-68468670;