rs17637986

Variant names:

• chr8-6776181-T-G
• rs17637986

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 0.0688 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
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.0299 AC: 1242 AN: 41570

American (AMR) AF: 0.0546 AC: 836 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.116 AC: 402 AN: 3472

East Asian (EAS) AF: 0.0784 AC: 405 AN: 5168

South Asian (SAS) AF: 0.204 AC: 983 AN: 4812

European-Finnish (FIN) AF: 0.0717 AC: 761 AN: 10620

Middle Eastern (MID) AF: 0.150 AC: 44 AN: 294

European-Non Finnish (NFE) AF: 0.0828 AC: 5634 AN: 68008

Other (OTH) AF: 0.0804 AC: 170 AN: 2114

Alfa AF: 0.0791 Hom.: 683

Bravo AF: 0.0619

Asia WGS AF: 0.159 AC: 552 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.56
DANN	Benign	0.43
PhyloP100		-0.78

Splicing

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

Other links and lift over

dbSNP: rs17637986; hg19: chr8-6633702;