17-43759896-G-C

Variant names:

• chr17-43759896-G-C
• rs851057

Variant summary

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

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 0.79 (46249 hom., cov: 20)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0800

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.863 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: 0.791 AC: 114504 AN: 144754 Hom.: 46221 Cov.: 20

Gnomad AFR AF: 0.692

Gnomad AMI AF: 0.910

Gnomad AMR AF: 0.744

Gnomad ASJ AF: 0.866

Gnomad EAS AF: 0.401

Gnomad SAS AF: 0.715

Gnomad FIN AF: 0.899

Gnomad MID AF: 0.838

Gnomad NFE AF: 0.869

Gnomad OTH AF: 0.801

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

GnomAD4 genome AF: 0.791 AC: 114580 AN: 144882 Hom.: 46249 Cov.: 20 AF XY: 0.788 AC XY: 55187 AN XY: 70034

Gnomad4 AFR AF: 0.692

Gnomad4 AMR AF: 0.743

Gnomad4 ASJ AF: 0.866

Gnomad4 EAS AF: 0.401

Gnomad4 SAS AF: 0.716

Gnomad4 FIN AF: 0.899

Gnomad4 NFE AF: 0.869

Gnomad4 OTH AF: 0.802

Alfa AF: 0.798 Hom.: 2610

Bravo AF: 0.766

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.6
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: rs851057; hg19: chr17-41837264;