rs17741410

Variant names:

• chr8-85319836-A-G
• rs17741410

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 0.129 in 152,194 control chromosomes in the GnomAD database, including 1,527 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 0.13 (1527 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.183
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.179 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: 0.129 AC: 19585 AN: 152076 Hom.: 1526 Cov.: 31

Gnomad AFR AF: 0.0614

Gnomad AMI AF: 0.102

Gnomad AMR AF: 0.0880

Gnomad ASJ AF: 0.124

Gnomad EAS AF: 0.00597

Gnomad SAS AF: 0.159

Gnomad FIN AF: 0.166

Gnomad MID AF: 0.0633

Gnomad NFE AF: 0.182

Gnomad OTH AF: 0.116

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

GnomAD4 genome AF: 0.129 AC: 19595 AN: 152194 Hom.: 1527 Cov.: 31 AF XY: 0.128 AC XY: 9503 AN XY: 74402

African (AFR) AF: 0.0613 AC: 2548 AN: 41560

American (AMR) AF: 0.0878 AC: 1343 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.124 AC: 429 AN: 3464

East Asian (EAS) AF: 0.00599 AC: 31 AN: 5178

South Asian (SAS) AF: 0.159 AC: 765 AN: 4820

European-Finnish (FIN) AF: 0.166 AC: 1757 AN: 10588

Middle Eastern (MID) AF: 0.0646 AC: 19 AN: 294

European-Non Finnish (NFE) AF: 0.182 AC: 12360 AN: 67974

Other (OTH) AF: 0.118 AC: 250 AN: 2114

Alfa AF: 0.161 Hom.: 2977

Bravo AF: 0.116

Asia WGS AF: 0.0940 AC: 327 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	2.5
DANN	Benign	0.73
PhyloP100		-0.18

Splicing

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

Other links and lift over

dbSNP: rs17741410; hg19: chr8-86232065;