rs11986893

Variant names:

• chr8-42797716-A-C
• rs11986893

Your query was ambiguous. Multiple possible variants found:

• chr8-42797716-A-C
• chr8-42797716-A-G

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 0.329 in 152,122 control chromosomes in the GnomAD database, including 11,272 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 0.33 (11272 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.606
• Publications: 5 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 = 0.632 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: 0.329 AC: 50022 AN: 152004 Hom.: 11241 Cov.: 32

Gnomad AFR AF: 0.638

Gnomad AMI AF: 0.123

Gnomad AMR AF: 0.308

Gnomad ASJ AF: 0.214

Gnomad EAS AF: 0.186

Gnomad SAS AF: 0.252

Gnomad FIN AF: 0.139

Gnomad MID AF: 0.275

Gnomad NFE AF: 0.201

Gnomad OTH AF: 0.329

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

GnomAD4 genome AF: 0.329 AC: 50108 AN: 152122 Hom.: 11272 Cov.: 32 AF XY: 0.323 AC XY: 24043 AN XY: 74382

African (AFR) AF: 0.638 AC: 26466 AN: 41466

American (AMR) AF: 0.308 AC: 4705 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.214 AC: 741 AN: 3470

East Asian (EAS) AF: 0.185 AC: 961 AN: 5192

South Asian (SAS) AF: 0.250 AC: 1205 AN: 4824

European-Finnish (FIN) AF: 0.139 AC: 1473 AN: 10592

Middle Eastern (MID) AF: 0.265 AC: 78 AN: 294

European-Non Finnish (NFE) AF: 0.201 AC: 13675 AN: 67992

Other (OTH) AF: 0.328 AC: 692 AN: 2110

Alfa AF: 0.237 Hom.: 22444

Bravo AF: 0.358

Asia WGS AF: 0.284 AC: 989 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.4
DANN	Benign	0.14
PhyloP100		-0.61

Splicing

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

Other links and lift over

dbSNP: rs11986893; hg19: chr8-42652859;