rs1851851

Variant names:

• chr11-49931622-T-C
• rs1851851

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 0.0411 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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.00986 AC: 410 AN: 41580

American (AMR) AF: 0.0395 AC: 603 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.0228 AC: 79 AN: 3468

East Asian (EAS) AF: 0.000579 AC: 3 AN: 5180

South Asian (SAS) AF: 0.0392 AC: 189 AN: 4826

European-Finnish (FIN) AF: 0.0553 AC: 586 AN: 10606

Middle Eastern (MID) AF: 0.0340 AC: 10 AN: 294

European-Non Finnish (NFE) AF: 0.0629 AC: 4276 AN: 68012

Other (OTH) AF: 0.0483 AC: 102 AN: 2110

Alfa AF: 0.0537 Hom.: 32

Bravo AF: 0.0375

Asia WGS AF: 0.0170 AC: 61 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.70
DANN	Benign	0.48
PhyloP100		-0.80

Splicing

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

Other links and lift over

dbSNP: rs1851851; hg19: chr11-49953174;