chr8-111828621-T-C

Variant names:

• chr8-111828621-T-C
• rs11994137

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 0.12 in 152,124 control chromosomes in the GnomAD database, including 1,853 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 0.12 (1853 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.559
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.275 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: 0.120 AC: 18231 AN: 152006 Hom.: 1852 Cov.: 32

Gnomad AFR AF: 0.279

Gnomad AMI AF: 0.0680

Gnomad AMR AF: 0.0719

Gnomad ASJ AF: 0.0704

Gnomad EAS AF: 0.0500

Gnomad SAS AF: 0.0507

Gnomad FIN AF: 0.0342

Gnomad MID AF: 0.0570

Gnomad NFE AF: 0.0614

Gnomad OTH AF: 0.109

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

GnomAD4 genome AF: 0.120 AC: 18261 AN: 152124 Hom.: 1853 Cov.: 32 AF XY: 0.117 AC XY: 8695 AN XY: 74382

African (AFR) AF: 0.279 AC: 11566 AN: 41454

American (AMR) AF: 0.0718 AC: 1098 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.0704 AC: 244 AN: 3464

East Asian (EAS) AF: 0.0499 AC: 258 AN: 5170

South Asian (SAS) AF: 0.0501 AC: 242 AN: 4826

European-Finnish (FIN) AF: 0.0342 AC: 363 AN: 10608

Middle Eastern (MID) AF: 0.0612 AC: 18 AN: 294

European-Non Finnish (NFE) AF: 0.0614 AC: 4177 AN: 67986

Other (OTH) AF: 0.110 AC: 233 AN: 2114

Alfa AF: 0.0570 Hom.: 175

Bravo AF: 0.131

Asia WGS AF: 0.0780 AC: 271 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.64
DANN	Benign	0.50
PhyloP100		-0.56

Splicing

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

Other links and lift over

dbSNP: rs11994137; hg19: chr8-112840850;