rs9644568

Variant names:

• chr8-20071071-G-A
• rs9644568

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 0.11 in 152,174 control chromosomes in the GnomAD database, including 967 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 0.11 (967 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.523

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.127 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: 0.110 AC: 16723 AN: 152056 Hom.: 968 Cov.: 32

Gnomad AFR AF: 0.0790

Gnomad AMI AF: 0.175

Gnomad AMR AF: 0.0911

Gnomad ASJ AF: 0.145

Gnomad EAS AF: 0.123

Gnomad SAS AF: 0.110

Gnomad FIN AF: 0.111

Gnomad MID AF: 0.133

Gnomad NFE AF: 0.129

Gnomad OTH AF: 0.118

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

GnomAD4 genome AF: 0.110 AC: 16719 AN: 152174 Hom.: 967 Cov.: 32 AF XY: 0.109 AC XY: 8144 AN XY: 74420

Gnomad4 AFR AF: 0.0790

Gnomad4 AMR AF: 0.0911

Gnomad4 ASJ AF: 0.145

Gnomad4 EAS AF: 0.122

Gnomad4 SAS AF: 0.110

Gnomad4 FIN AF: 0.111

Gnomad4 NFE AF: 0.129

Gnomad4 OTH AF: 0.116

Alfa AF: 0.116 Hom.: 322

Bravo AF: 0.106

Asia WGS AF: 0.118 AC: 410 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.5
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9644568; hg19: chr8-19928582; COSMIC: COSV70594369;