rs695167

Variant names:

• chr8-69118917-G-A
• rs695167

Your query was ambiguous. Multiple possible variants found:

• chr8-69118917-G-A
• chr8-69118917-G-C

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 0.639 in 150,140 control chromosomes in the GnomAD database, including 32,136 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 0.64 (32136 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.762

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.934 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: 0.638 AC: 95772 AN: 150038 Hom.: 32086 Cov.: 31

Gnomad AFR AF: 0.831

Gnomad AMI AF: 0.302

Gnomad AMR AF: 0.649

Gnomad ASJ AF: 0.505

Gnomad EAS AF: 0.957

Gnomad SAS AF: 0.703

Gnomad FIN AF: 0.599

Gnomad MID AF: 0.605

Gnomad NFE AF: 0.507

Gnomad OTH AF: 0.623

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

GnomAD4 genome AF: 0.639 AC: 95870 AN: 150140 Hom.: 32136 Cov.: 31 AF XY: 0.645 AC XY: 47270 AN XY: 73312

Gnomad4 AFR AF: 0.831

Gnomad4 AMR AF: 0.649

Gnomad4 ASJ AF: 0.505

Gnomad4 EAS AF: 0.957

Gnomad4 SAS AF: 0.702

Gnomad4 FIN AF: 0.599

Gnomad4 NFE AF: 0.507

Gnomad4 OTH AF: 0.624

Alfa AF: 0.558 Hom.: 4698

Bravo AF: 0.651

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.6
DANN	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs695167; hg19: chr8-70031152;