rs1027730

Positions:

• chr8-93073310-G-A
• chr8-93073310-G-C

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 0.0898 in 152,032 control chromosomes in the GnomAD database, including 890 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 0.090 (890 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.24

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.307 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0898 AC: 13638 AN: 151914 Hom.: 889 Cov.: 32

Gnomad AFR AF: 0.0372

Gnomad AMI AF: 0.114

Gnomad AMR AF: 0.147

Gnomad ASJ AF: 0.145

Gnomad EAS AF: 0.320

Gnomad SAS AF: 0.181

Gnomad FIN AF: 0.0558

Gnomad MID AF: 0.191

Gnomad NFE AF: 0.0860

Gnomad OTH AF: 0.112

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

GnomAD4 genome AF: 0.0898 AC: 13650 AN: 152032 Hom.: 890 Cov.: 32 AF XY: 0.0932 AC XY: 6926 AN XY: 74318

Gnomad4 AFR AF: 0.0374

Gnomad4 AMR AF: 0.148

Gnomad4 ASJ AF: 0.145

Gnomad4 EAS AF: 0.320

Gnomad4 SAS AF: 0.180

Gnomad4 FIN AF: 0.0558

Gnomad4 NFE AF: 0.0860

Gnomad4 OTH AF: 0.115

Alfa AF: 0.0881 Hom.: 337

Bravo AF: 0.0944

Asia WGS AF: 0.248 AC: 857 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	14
DANN	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1027730; hg19: chr8-94085539; COSMIC: COSV57613645;