rs4300027

Variant names:

• chr8-7023053-T-C
• rs4300027

Your query was ambiguous. Multiple possible variants found:

• chr8-7023053-T-C
• chr8-7023053-T-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 0.617 in 152,016 control chromosomes in the GnomAD database, including 30,492 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 0.62 (30492 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.306
• Publications: 10 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 = 0.823 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: 0.617 AC: 93675 AN: 151898 Hom.: 30451 Cov.: 32

Gnomad AFR AF: 0.830

Gnomad AMI AF: 0.520

Gnomad AMR AF: 0.598

Gnomad ASJ AF: 0.488

Gnomad EAS AF: 0.619

Gnomad SAS AF: 0.589

Gnomad FIN AF: 0.506

Gnomad MID AF: 0.601

Gnomad NFE AF: 0.518

Gnomad OTH AF: 0.607

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

GnomAD4 genome AF: 0.617 AC: 93774 AN: 152016 Hom.: 30492 Cov.: 32 AF XY: 0.612 AC XY: 45487 AN XY: 74290

African (AFR) AF: 0.830 AC: 34428 AN: 41470

American (AMR) AF: 0.598 AC: 9134 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.488 AC: 1696 AN: 3472

East Asian (EAS) AF: 0.619 AC: 3197 AN: 5164

South Asian (SAS) AF: 0.589 AC: 2839 AN: 4818

European-Finnish (FIN) AF: 0.506 AC: 5342 AN: 10558

Middle Eastern (MID) AF: 0.609 AC: 179 AN: 294

European-Non Finnish (NFE) AF: 0.518 AC: 35210 AN: 67944

Other (OTH) AF: 0.604 AC: 1276 AN: 2114

Alfa AF: 0.549 Hom.: 47363

Bravo AF: 0.634

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.3
DANN	Benign	0.67
PhyloP100		0.31

Splicing

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

Other links and lift over

dbSNP: rs4300027; hg19: chr8-6880575;