11-35237644-A-C

Variant names:

• chr11-35237644-A-C
• rs7105037

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 0.793 in 152,090 control chromosomes in the GnomAD database, including 48,442 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 0.79 (48442 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0190
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.78).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.908 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: 0.792 AC: 120422 AN: 151972 Hom.: 48381 Cov.: 32

Gnomad AFR AF: 0.916

Gnomad AMI AF: 0.722

Gnomad AMR AF: 0.818

Gnomad ASJ AF: 0.817

Gnomad EAS AF: 0.908

Gnomad SAS AF: 0.783

Gnomad FIN AF: 0.718

Gnomad MID AF: 0.842

Gnomad NFE AF: 0.714

Gnomad OTH AF: 0.791

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

GnomAD4 genome AF: 0.793 AC: 120546 AN: 152090 Hom.: 48442 Cov.: 32 AF XY: 0.796 AC XY: 59176 AN XY: 74320

African (AFR) AF: 0.916 AC: 38044 AN: 41528

American (AMR) AF: 0.818 AC: 12486 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.817 AC: 2835 AN: 3468

East Asian (EAS) AF: 0.908 AC: 4693 AN: 5168

South Asian (SAS) AF: 0.783 AC: 3771 AN: 4814

European-Finnish (FIN) AF: 0.718 AC: 7571 AN: 10548

Middle Eastern (MID) AF: 0.844 AC: 248 AN: 294

European-Non Finnish (NFE) AF: 0.714 AC: 48567 AN: 67980

Other (OTH) AF: 0.794 AC: 1675 AN: 2110

Alfa AF: 0.764 Hom.: 5832

Bravo AF: 0.806

Asia WGS AF: 0.847 AC: 2942 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.78
CADD	Benign	13
DANN	Benign	0.80
PhyloP100		-0.019

Splicing

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

Other links and lift over

dbSNP: rs7105037; hg19: chr11-35259191;