rs11988857

Variant names:

• chr8-127519628-G-A
• rs11988857

Your query was ambiguous. Multiple possible variants found:

• chr8-127519628-G-A
• chr8-127519628-G-T

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 0.804 in 151,768 control chromosomes in the GnomAD database, including 49,813 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 0.80 (49813 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.424
• Publications: 14 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.875 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: 0.804 AC: 121927 AN: 151654 Hom.: 49792 Cov.: 32

Gnomad AFR AF: 0.650

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.841

Gnomad ASJ AF: 0.922

Gnomad EAS AF: 0.765

Gnomad SAS AF: 0.829

Gnomad FIN AF: 0.807

Gnomad MID AF: 0.899

Gnomad NFE AF: 0.881

Gnomad OTH AF: 0.843

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

GnomAD4 genome AF: 0.804 AC: 121991 AN: 151768 Hom.: 49813 Cov.: 32 AF XY: 0.802 AC XY: 59543 AN XY: 74202

African (AFR) AF: 0.651 AC: 26951 AN: 41420

American (AMR) AF: 0.840 AC: 12843 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.922 AC: 3201 AN: 3472

East Asian (EAS) AF: 0.765 AC: 3963 AN: 5180

South Asian (SAS) AF: 0.829 AC: 3995 AN: 4818

European-Finnish (FIN) AF: 0.807 AC: 8364 AN: 10362

Middle Eastern (MID) AF: 0.905 AC: 266 AN: 294

European-Non Finnish (NFE) AF: 0.881 AC: 59816 AN: 67914

Other (OTH) AF: 0.838 AC: 1768 AN: 2110

Alfa AF: 0.863 Hom.: 42762

Bravo AF: 0.797

Asia WGS AF: 0.745 AC: 2565 AN: 3438

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.5
DANN	Benign	0.55
PhyloP100		-0.42

Splicing

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

Other links and lift over

dbSNP: rs11988857; hg19: chr8-128531873;