chr8-27232230-T-C

Variant names:

• chr8-27232230-T-C
• rs11783299

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 0.475 in 151,978 control chromosomes in the GnomAD database, including 17,401 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 0.47 (17401 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0260
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.517 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: 0.475 AC: 72114 AN: 151860 Hom.: 17396 Cov.: 32

Gnomad AFR AF: 0.407

Gnomad AMI AF: 0.532

Gnomad AMR AF: 0.424

Gnomad ASJ AF: 0.497

Gnomad EAS AF: 0.468

Gnomad SAS AF: 0.530

Gnomad FIN AF: 0.482

Gnomad MID AF: 0.427

Gnomad NFE AF: 0.521

Gnomad OTH AF: 0.460

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

GnomAD4 genome AF: 0.475 AC: 72139 AN: 151978 Hom.: 17401 Cov.: 32 AF XY: 0.474 AC XY: 35221 AN XY: 74296

African (AFR) AF: 0.407 AC: 16852 AN: 41436

American (AMR) AF: 0.424 AC: 6482 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.497 AC: 1724 AN: 3468

East Asian (EAS) AF: 0.468 AC: 2398 AN: 5128

South Asian (SAS) AF: 0.529 AC: 2549 AN: 4820

European-Finnish (FIN) AF: 0.482 AC: 5099 AN: 10568

Middle Eastern (MID) AF: 0.425 AC: 125 AN: 294

European-Non Finnish (NFE) AF: 0.521 AC: 35439 AN: 67960

Other (OTH) AF: 0.467 AC: 987 AN: 2114

Alfa AF: 0.500 Hom.: 2376

Bravo AF: 0.464

Asia WGS AF: 0.492 AC: 1712 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	4.1
DANN	Benign	0.58
PhyloP100		0.026

Splicing

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

Other links and lift over

dbSNP: rs11783299; hg19: chr8-27089747;