rs17637986

chr8-6776181-T-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 0.0688 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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;