rs695167

chr8-69118917-G-Achr8-69118917-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/exons	MANE	UniProt

Ensembl

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