rs9644568

Variant names:

• chr8-20071071-G-A
• rs9644568

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 0.11 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
• Publications: 28 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.0790 AC: 3278 AN: 41504

American (AMR) AF: 0.0911 AC: 1393 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.145 AC: 503 AN: 3464

East Asian (EAS) AF: 0.122 AC: 634 AN: 5182

South Asian (SAS) AF: 0.110 AC: 530 AN: 4824

European-Finnish (FIN) AF: 0.111 AC: 1172 AN: 10600

Middle Eastern (MID) AF: 0.116 AC: 34 AN: 294

European-Non Finnish (NFE) AF: 0.129 AC: 8769 AN: 67986

Other (OTH) AF: 0.116 AC: 246 AN: 2112

Alfa AF: 0.107 Hom.: 527

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
PhyloP100		0.52

Splicing

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

Other links and lift over

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