rs6998277

Variant names:

• chr8-102627713-T-C
• rs6998277

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 0.262 in 152,022 control chromosomes in the GnomAD database, including 6,238 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 0.26 (6238 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0820

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.439 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: 0.262 AC: 39817 AN: 151904 Hom.: 6220 Cov.: 32

Gnomad AFR AF: 0.444

Gnomad AMI AF: 0.173

Gnomad AMR AF: 0.191

Gnomad ASJ AF: 0.158

Gnomad EAS AF: 0.161

Gnomad SAS AF: 0.213

Gnomad FIN AF: 0.190

Gnomad MID AF: 0.152

Gnomad NFE AF: 0.198

Gnomad OTH AF: 0.232

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

GnomAD4 genome AF: 0.262 AC: 39887 AN: 152022 Hom.: 6238 Cov.: 32 AF XY: 0.259 AC XY: 19221 AN XY: 74318

Gnomad4 AFR AF: 0.444

Gnomad4 AMR AF: 0.191

Gnomad4 ASJ AF: 0.158

Gnomad4 EAS AF: 0.160

Gnomad4 SAS AF: 0.214

Gnomad4 FIN AF: 0.190

Gnomad4 NFE AF: 0.198

Gnomad4 OTH AF: 0.231

Alfa AF: 0.201 Hom.: 3038

Bravo AF: 0.267

Asia WGS AF: 0.274 AC: 953 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.6
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6998277; hg19: chr8-103639941;