rs17637986

Variant names:

• chr8-6776181-T-G
• rs17637986

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 0.0688 in 152,268 control chromosomes in the GnomAD database, including 475 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 0.069 (475 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.780

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.194 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: 0.0688 AC: 10470 AN: 152148 Hom.: 472 Cov.: 32

Gnomad AFR AF: 0.0298

Gnomad AMI AF: 0.00439

Gnomad AMR AF: 0.0548

Gnomad ASJ AF: 0.116

Gnomad EAS AF: 0.0782

Gnomad SAS AF: 0.204

Gnomad FIN AF: 0.0717

Gnomad MID AF: 0.146

Gnomad NFE AF: 0.0829

Gnomad OTH AF: 0.0770

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

GnomAD4 genome AF: 0.0688 AC: 10481 AN: 152268 Hom.: 475 Cov.: 32 AF XY: 0.0708 AC XY: 5268 AN XY: 74452

Gnomad4 AFR AF: 0.0299

Gnomad4 AMR AF: 0.0546

Gnomad4 ASJ AF: 0.116

Gnomad4 EAS AF: 0.0784

Gnomad4 SAS AF: 0.204

Gnomad4 FIN AF: 0.0717

Gnomad4 NFE AF: 0.0828

Gnomad4 OTH AF: 0.0804

Alfa AF: 0.0819 Hom.: 563

Bravo AF: 0.0619

Asia WGS AF: 0.159 AC: 552 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.56
DANN	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17637986; hg19: chr8-6633702;