rs11988595

Variant names:

• chr8-75040451-C-T
• rs11988595

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 0.421 in 151,774 control chromosomes in the GnomAD database, including 15,906 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 0.42 (15906 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.185
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.701 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: 0.421 AC: 63783 AN: 151656 Hom.: 15859 Cov.: 32

Gnomad AFR AF: 0.707

Gnomad AMI AF: 0.286

Gnomad AMR AF: 0.285

Gnomad ASJ AF: 0.288

Gnomad EAS AF: 0.297

Gnomad SAS AF: 0.284

Gnomad FIN AF: 0.380

Gnomad MID AF: 0.370

Gnomad NFE AF: 0.312

Gnomad OTH AF: 0.393

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

GnomAD4 genome AF: 0.421 AC: 63887 AN: 151774 Hom.: 15906 Cov.: 32 AF XY: 0.419 AC XY: 31073 AN XY: 74186

African (AFR) AF: 0.707 AC: 29303 AN: 41424

American (AMR) AF: 0.285 AC: 4339 AN: 15224

Ashkenazi Jewish (ASJ) AF: 0.288 AC: 998 AN: 3466

East Asian (EAS) AF: 0.297 AC: 1538 AN: 5172

South Asian (SAS) AF: 0.284 AC: 1364 AN: 4810

European-Finnish (FIN) AF: 0.380 AC: 4002 AN: 10528

Middle Eastern (MID) AF: 0.367 AC: 108 AN: 294

European-Non Finnish (NFE) AF: 0.312 AC: 21145 AN: 67844

Other (OTH) AF: 0.394 AC: 830 AN: 2104

Alfa AF: 0.385 Hom.: 2639

Bravo AF: 0.426

Asia WGS AF: 0.338 AC: 1174 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	0.80
DANN	Benign	0.56
PhyloP100		-0.18

Splicing

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

Other links and lift over

dbSNP: rs11988595; hg19: chr8-75952686;