chr8-27619992-C-T

Variant names:

• chr8-27619992-C-T
• rs484377

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 0.637 in 151,838 control chromosomes in the GnomAD database, including 32,236 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 0.64 (32236 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.43
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.851 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: 0.636 AC: 96550 AN: 151720 Hom.: 32176 Cov.: 31

Gnomad AFR AF: 0.858

Gnomad AMI AF: 0.594

Gnomad AMR AF: 0.589

Gnomad ASJ AF: 0.523

Gnomad EAS AF: 0.481

Gnomad SAS AF: 0.492

Gnomad FIN AF: 0.561

Gnomad MID AF: 0.551

Gnomad NFE AF: 0.554

Gnomad OTH AF: 0.602

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

GnomAD4 genome AF: 0.637 AC: 96668 AN: 151838 Hom.: 32236 Cov.: 31 AF XY: 0.634 AC XY: 47013 AN XY: 74192

African (AFR) AF: 0.858 AC: 35566 AN: 41432

American (AMR) AF: 0.590 AC: 8992 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.523 AC: 1815 AN: 3470

East Asian (EAS) AF: 0.481 AC: 2480 AN: 5156

South Asian (SAS) AF: 0.491 AC: 2364 AN: 4812

European-Finnish (FIN) AF: 0.561 AC: 5894 AN: 10498

Middle Eastern (MID) AF: 0.541 AC: 158 AN: 292

European-Non Finnish (NFE) AF: 0.553 AC: 37590 AN: 67914

Other (OTH) AF: 0.603 AC: 1272 AN: 2110

Alfa AF: 0.542 Hom.: 2912

Bravo AF: 0.648

Asia WGS AF: 0.476 AC: 1657 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.43
DANN	Benign	0.30
PhyloP100		-2.4

Splicing

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

Other links and lift over

dbSNP: rs484377; hg19: chr8-27477509;