rs6992136

Variant names:

• chr8-15884978-G-A
• rs6992136

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 0.211 in 152,040 control chromosomes in the GnomAD database, including 3,906 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 0.21 (3906 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00800
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.32 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: 0.211 AC: 32046 AN: 151922 Hom.: 3894 Cov.: 32

Gnomad AFR AF: 0.324

Gnomad AMI AF: 0.0680

Gnomad AMR AF: 0.165

Gnomad ASJ AF: 0.166

Gnomad EAS AF: 0.0651

Gnomad SAS AF: 0.197

Gnomad FIN AF: 0.0931

Gnomad MID AF: 0.203

Gnomad NFE AF: 0.187

Gnomad OTH AF: 0.228

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

GnomAD4 genome AF: 0.211 AC: 32101 AN: 152040 Hom.: 3906 Cov.: 32 AF XY: 0.205 AC XY: 15214 AN XY: 74336

African (AFR) AF: 0.324 AC: 13438 AN: 41444

American (AMR) AF: 0.165 AC: 2527 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.166 AC: 575 AN: 3472

East Asian (EAS) AF: 0.0651 AC: 336 AN: 5164

South Asian (SAS) AF: 0.197 AC: 949 AN: 4814

European-Finnish (FIN) AF: 0.0931 AC: 985 AN: 10580

Middle Eastern (MID) AF: 0.190 AC: 56 AN: 294

European-Non Finnish (NFE) AF: 0.187 AC: 12687 AN: 67970

Other (OTH) AF: 0.231 AC: 486 AN: 2108

Alfa AF: 0.220 Hom.: 586

Bravo AF: 0.219

Asia WGS AF: 0.144 AC: 499 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.0
DANN	Benign	0.40
PhyloP100		-0.0080

Splicing

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

Other links and lift over

dbSNP: rs6992136; hg19: chr8-15742487;