rs4300027

chr8-7023053-T-Cchr8-7023053-T-G

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.830

Gnomad4 AMR AF: 0.598

Gnomad4 ASJ AF: 0.488

Gnomad4 EAS AF: 0.619

Gnomad4 SAS AF: 0.589

Gnomad4 FIN AF: 0.506

Gnomad4 NFE AF: 0.518

Gnomad4 OTH AF: 0.604

Alfa AF: 0.514 Hom.: 9978

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4300027; hg19: chr8-6880575;