rs6996198

Variant names:

• chr8-64550885-C-T
• rs6996198

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 0.179 in 152,034 control chromosomes in the GnomAD database, including 2,477 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 0.18 (2477 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.413
• Publications: 13 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.214 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: 0.179 AC: 27212 AN: 151916 Hom.: 2466 Cov.: 32

Gnomad AFR AF: 0.217

Gnomad AMI AF: 0.0692

Gnomad AMR AF: 0.173

Gnomad ASJ AF: 0.139

Gnomad EAS AF: 0.189

Gnomad SAS AF: 0.185

Gnomad FIN AF: 0.167

Gnomad MID AF: 0.185

Gnomad NFE AF: 0.161

Gnomad OTH AF: 0.179

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

GnomAD4 genome AF: 0.179 AC: 27262 AN: 152034 Hom.: 2477 Cov.: 32 AF XY: 0.181 AC XY: 13474 AN XY: 74302

African (AFR) AF: 0.217 AC: 9021 AN: 41480

American (AMR) AF: 0.173 AC: 2648 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.139 AC: 483 AN: 3466

East Asian (EAS) AF: 0.189 AC: 975 AN: 5158

South Asian (SAS) AF: 0.186 AC: 898 AN: 4822

European-Finnish (FIN) AF: 0.167 AC: 1766 AN: 10550

Middle Eastern (MID) AF: 0.192 AC: 56 AN: 292

European-Non Finnish (NFE) AF: 0.161 AC: 10972 AN: 67976

Other (OTH) AF: 0.180 AC: 380 AN: 2110

Alfa AF: 0.166 Hom.: 8674

Bravo AF: 0.178

Asia WGS AF: 0.191 AC: 662 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	2.7
DANN	Benign	0.64
PhyloP100		-0.41

Splicing

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

Other links and lift over

dbSNP: rs6996198; hg19: chr8-65463442;