rs17410914

Variant names:

• chr8-19985951-C-A
• rs17410914

Your query was ambiguous. Multiple possible variants found:

• chr8-19985951-C-A
• chr8-19985951-C-T

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 0.1 in 152,106 control chromosomes in the GnomAD database, including 767 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 0.10 (767 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.321
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.11 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: 0.100 AC: 15238 AN: 151988 Hom.: 768 Cov.: 31

Gnomad AFR AF: 0.112

Gnomad AMI AF: 0.155

Gnomad AMR AF: 0.0799

Gnomad ASJ AF: 0.101

Gnomad EAS AF: 0.106

Gnomad SAS AF: 0.0954

Gnomad FIN AF: 0.0873

Gnomad MID AF: 0.120

Gnomad NFE AF: 0.0986

Gnomad OTH AF: 0.0942

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

GnomAD4 genome AF: 0.100 AC: 15234 AN: 152106 Hom.: 767 Cov.: 31 AF XY: 0.0992 AC XY: 7374 AN XY: 74344

African (AFR) AF: 0.112 AC: 4661 AN: 41486

American (AMR) AF: 0.0798 AC: 1220 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.101 AC: 351 AN: 3466

East Asian (EAS) AF: 0.106 AC: 547 AN: 5166

South Asian (SAS) AF: 0.0951 AC: 458 AN: 4816

European-Finnish (FIN) AF: 0.0873 AC: 924 AN: 10584

Middle Eastern (MID) AF: 0.105 AC: 31 AN: 294

European-Non Finnish (NFE) AF: 0.0986 AC: 6704 AN: 67986

Other (OTH) AF: 0.0932 AC: 197 AN: 2114

Alfa AF: 0.0714 Hom.: 113

Bravo AF: 0.0997

Asia WGS AF: 0.105 AC: 366 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.8
DANN	Benign	0.34
PhyloP100		-0.32

Splicing

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

Other links and lift over

dbSNP: rs17410914; hg19: chr8-19843462;