rs598714

Variant names:

• chr1-181857793-C-A
• rs598714

Your query was ambiguous. Multiple possible variants found:

• chr1-181857793-C-A
• chr1-181857793-C-G

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 0.702 in 151,972 control chromosomes in the GnomAD database, including 37,604 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 0.70 (37604 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0960

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.73 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: 0.702 AC: 106594 AN: 151854 Hom.: 37581 Cov.: 31

Gnomad AFR AF: 0.737

Gnomad AMI AF: 0.735

Gnomad AMR AF: 0.707

Gnomad ASJ AF: 0.610

Gnomad EAS AF: 0.563

Gnomad SAS AF: 0.692

Gnomad FIN AF: 0.714

Gnomad MID AF: 0.782

Gnomad NFE AF: 0.692

Gnomad OTH AF: 0.715

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

GnomAD4 genome AF: 0.702 AC: 106662 AN: 151972 Hom.: 37604 Cov.: 31 AF XY: 0.699 AC XY: 51900 AN XY: 74286

Gnomad4 AFR AF: 0.737

Gnomad4 AMR AF: 0.708

Gnomad4 ASJ AF: 0.610

Gnomad4 EAS AF: 0.563

Gnomad4 SAS AF: 0.692

Gnomad4 FIN AF: 0.714

Gnomad4 NFE AF: 0.692

Gnomad4 OTH AF: 0.708

Alfa AF: 0.682 Hom.: 41683

Bravo AF: 0.702

Asia WGS AF: 0.629 AC: 2190 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.2
DANN	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs598714; hg19: chr1-181826928;