chr11-86145145-C-G

Variant names:

• chr11-86145145-C-G
• rs7110631

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 0.726 in 152,088 control chromosomes in the GnomAD database, including 40,603 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 0.73 (40603 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.603
• Publications: 21 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.851 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: 0.726 AC: 110302 AN: 151972 Hom.: 40564 Cov.: 31

Gnomad AFR AF: 0.859

Gnomad AMI AF: 0.599

Gnomad AMR AF: 0.667

Gnomad ASJ AF: 0.692

Gnomad EAS AF: 0.592

Gnomad SAS AF: 0.660

Gnomad FIN AF: 0.663

Gnomad MID AF: 0.652

Gnomad NFE AF: 0.687

Gnomad OTH AF: 0.723

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

GnomAD4 genome AF: 0.726 AC: 110396 AN: 152088 Hom.: 40603 Cov.: 31 AF XY: 0.722 AC XY: 53668 AN XY: 74354

African (AFR) AF: 0.859 AC: 35636 AN: 41502

American (AMR) AF: 0.667 AC: 10172 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.692 AC: 2401 AN: 3470

East Asian (EAS) AF: 0.591 AC: 3068 AN: 5190

South Asian (SAS) AF: 0.661 AC: 3183 AN: 4816

European-Finnish (FIN) AF: 0.663 AC: 7005 AN: 10562

Middle Eastern (MID) AF: 0.660 AC: 194 AN: 294

European-Non Finnish (NFE) AF: 0.687 AC: 46673 AN: 67980

Other (OTH) AF: 0.722 AC: 1518 AN: 2102

Alfa AF: 0.717 Hom.: 4868

Bravo AF: 0.731

Asia WGS AF: 0.617 AC: 2145 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	2.4
DANN	Benign	0.40
PhyloP100		0.60

Splicing

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

Other links and lift over

dbSNP: rs7110631; hg19: chr11-85856187;