rs1881140

Variant names:

• chr17-50239511-A-G
• rs1881140

Your query was ambiguous. Multiple possible variants found:

• chr17-50239511-A-G
• chr17-50239511-A-T

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 0.495 in 151,488 control chromosomes in the GnomAD database, including 18,888 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 0.50 (18888 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.57

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.583 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: 0.495 AC: 74942 AN: 151372 Hom.: 18870 Cov.: 30

Gnomad AFR AF: 0.590

Gnomad AMI AF: 0.666

Gnomad AMR AF: 0.410

Gnomad ASJ AF: 0.492

Gnomad EAS AF: 0.364

Gnomad SAS AF: 0.559

Gnomad FIN AF: 0.460

Gnomad MID AF: 0.475

Gnomad NFE AF: 0.465

Gnomad OTH AF: 0.499

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

GnomAD4 genome AF: 0.495 AC: 74993 AN: 151488 Hom.: 18888 Cov.: 30 AF XY: 0.490 AC XY: 36272 AN XY: 73962

Gnomad4 AFR AF: 0.590

Gnomad4 AMR AF: 0.410

Gnomad4 ASJ AF: 0.492

Gnomad4 EAS AF: 0.363

Gnomad4 SAS AF: 0.557

Gnomad4 FIN AF: 0.460

Gnomad4 NFE AF: 0.465

Gnomad4 OTH AF: 0.505

Alfa AF: 0.467 Hom.: 33154

Bravo AF: 0.492

Asia WGS AF: 0.486 AC: 1691 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.3
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1881140; hg19: chr17-48316872;