rs9935211

Variant names:

• chr16-79849179-A-G
• rs9935211

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 0.0946 in 152,216 control chromosomes in the GnomAD database, including 895 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 0.095 (895 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.71
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.131 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: 0.0945 AC: 14378 AN: 152098 Hom.: 891 Cov.: 33

Gnomad AFR AF: 0.134

Gnomad AMI AF: 0.00987

Gnomad AMR AF: 0.0528

Gnomad ASJ AF: 0.0778

Gnomad EAS AF: 0.00251

Gnomad SAS AF: 0.101

Gnomad FIN AF: 0.212

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.0703

Gnomad OTH AF: 0.0878

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

GnomAD4 genome AF: 0.0946 AC: 14397 AN: 152216 Hom.: 895 Cov.: 33 AF XY: 0.101 AC XY: 7549 AN XY: 74396

African (AFR) AF: 0.134 AC: 5569 AN: 41554

American (AMR) AF: 0.0528 AC: 807 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.0778 AC: 270 AN: 3470

East Asian (EAS) AF: 0.00252 AC: 13 AN: 5168

South Asian (SAS) AF: 0.101 AC: 485 AN: 4824

European-Finnish (FIN) AF: 0.212 AC: 2244 AN: 10588

Middle Eastern (MID) AF: 0.102 AC: 30 AN: 294

European-Non Finnish (NFE) AF: 0.0703 AC: 4779 AN: 68004

Other (OTH) AF: 0.0907 AC: 191 AN: 2106

Alfa AF: 0.0910 Hom.: 102

Bravo AF: 0.0824

Asia WGS AF: 0.0800 AC: 279 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.066
DANN	Benign	0.48
PhyloP100		-3.7

Splicing

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

Other links and lift over

dbSNP: rs9935211; hg19: chr16-79883076;