rs735942

Variant names:

• chr11-65981866-A-G
• rs735942

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 0.286 in 152,010 control chromosomes in the GnomAD database, including 6,978 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 0.29 (6978 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.552
• Publications: 17 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.346 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: 0.286 AC: 43509 AN: 151894 Hom.: 6977 Cov.: 31

Gnomad AFR AF: 0.164

Gnomad AMI AF: 0.157

Gnomad AMR AF: 0.237

Gnomad ASJ AF: 0.266

Gnomad EAS AF: 0.162

Gnomad SAS AF: 0.323

Gnomad FIN AF: 0.492

Gnomad MID AF: 0.415

Gnomad NFE AF: 0.349

Gnomad OTH AF: 0.272

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

GnomAD4 genome AF: 0.286 AC: 43514 AN: 152010 Hom.: 6978 Cov.: 31 AF XY: 0.293 AC XY: 21758 AN XY: 74308

African (AFR) AF: 0.164 AC: 6806 AN: 41486

American (AMR) AF: 0.237 AC: 3630 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.266 AC: 922 AN: 3466

East Asian (EAS) AF: 0.161 AC: 832 AN: 5164

South Asian (SAS) AF: 0.323 AC: 1556 AN: 4814

European-Finnish (FIN) AF: 0.492 AC: 5192 AN: 10560

Middle Eastern (MID) AF: 0.418 AC: 123 AN: 294

European-Non Finnish (NFE) AF: 0.349 AC: 23732 AN: 67918

Other (OTH) AF: 0.274 AC: 578 AN: 2112

Alfa AF: 0.321 Hom.: 27228

Bravo AF: 0.258

Asia WGS AF: 0.236 AC: 820 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.1
DANN	Benign	0.57
PhyloP100		0.55

Splicing

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

Other links and lift over

dbSNP: rs735942; hg19: chr11-65749337;