rs1851851

Variant names:

• chr11-49931622-T-C
• rs1851851

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0411 in 152,262 control chromosomes in the GnomAD database, including 191 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 0.041 (191 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.796

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0613 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: 0.0412 AC: 6261 AN: 152144 Hom.: 191 Cov.: 33

Gnomad AFR AF: 0.00989

Gnomad AMI AF: 0.00219

Gnomad AMR AF: 0.0395

Gnomad ASJ AF: 0.0228

Gnomad EAS AF: 0.000578

Gnomad SAS AF: 0.0389

Gnomad FIN AF: 0.0553

Gnomad MID AF: 0.0316

Gnomad NFE AF: 0.0629

Gnomad OTH AF: 0.0489

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

GnomAD4 genome AF: 0.0411 AC: 6260 AN: 152262 Hom.: 191 Cov.: 33 AF XY: 0.0403 AC XY: 3002 AN XY: 74432

Gnomad4 AFR AF: 0.00986

Gnomad4 AMR AF: 0.0395

Gnomad4 ASJ AF: 0.0228

Gnomad4 EAS AF: 0.000579

Gnomad4 SAS AF: 0.0392

Gnomad4 FIN AF: 0.0553

Gnomad4 NFE AF: 0.0629

Gnomad4 OTH AF: 0.0483

Alfa AF: 0.0538 Hom.: 32

Bravo AF: 0.0375

Asia WGS AF: 0.0170 AC: 61 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.70
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1851851; hg19: chr11-49953174;