rs6991990

Variant names:

• chr8-127533138-C-T
• rs6991990

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 0.273 in 152,078 control chromosomes in the GnomAD database, including 6,330 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 0.27 (6330 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.322

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.345 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: 0.273 AC: 41459 AN: 151960 Hom.: 6325 Cov.: 32

Gnomad AFR AF: 0.145

Gnomad AMI AF: 0.282

Gnomad AMR AF: 0.291

Gnomad ASJ AF: 0.356

Gnomad EAS AF: 0.206

Gnomad SAS AF: 0.263

Gnomad FIN AF: 0.260

Gnomad MID AF: 0.347

Gnomad NFE AF: 0.349

Gnomad OTH AF: 0.291

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

GnomAD4 genome AF: 0.273 AC: 41478 AN: 152078 Hom.: 6330 Cov.: 32 AF XY: 0.270 AC XY: 20094 AN XY: 74298

Gnomad4 AFR AF: 0.145

Gnomad4 AMR AF: 0.291

Gnomad4 ASJ AF: 0.356

Gnomad4 EAS AF: 0.207

Gnomad4 SAS AF: 0.264

Gnomad4 FIN AF: 0.260

Gnomad4 NFE AF: 0.349

Gnomad4 OTH AF: 0.291

Alfa AF: 0.336 Hom.: 16872

Bravo AF: 0.265

Asia WGS AF: 0.238 AC: 831 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	3.5
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6991990; hg19: chr8-128545383;