8-107535577-T-C

Variant names:

• chr8-107535577-T-C
• rs7818981

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 0.264 in 152,048 control chromosomes in the GnomAD database, including 6,459 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 0.26 (6459 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.160

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.357 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: 0.264 AC: 40148 AN: 151928 Hom.: 6459 Cov.: 32

Gnomad AFR AF: 0.111

Gnomad AMI AF: 0.432

Gnomad AMR AF: 0.239

Gnomad ASJ AF: 0.368

Gnomad EAS AF: 0.0235

Gnomad SAS AF: 0.161

Gnomad FIN AF: 0.391

Gnomad MID AF: 0.351

Gnomad NFE AF: 0.361

Gnomad OTH AF: 0.292

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

GnomAD4 genome AF: 0.264 AC: 40160 AN: 152048 Hom.: 6459 Cov.: 32 AF XY: 0.262 AC XY: 19499 AN XY: 74328

Gnomad4 AFR AF: 0.111

Gnomad4 AMR AF: 0.238

Gnomad4 ASJ AF: 0.368

Gnomad4 EAS AF: 0.0233

Gnomad4 SAS AF: 0.162

Gnomad4 FIN AF: 0.391

Gnomad4 NFE AF: 0.361

Gnomad4 OTH AF: 0.292

Alfa AF: 0.256 Hom.: 1317

Bravo AF: 0.247

Asia WGS AF: 0.118 AC: 412 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.3
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7818981; hg19: chr8-108547805;