rs8008758

Variant names:

• chr14-101223708-G-T
• rs8008758

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 0.271 in 152,112 control chromosomes in the GnomAD database, including 5,907 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 0.27 (5907 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.328

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.297 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: 0.271 AC: 41249 AN: 151994 Hom.: 5912 Cov.: 33

Gnomad AFR AF: 0.253

Gnomad AMI AF: 0.264

Gnomad AMR AF: 0.287

Gnomad ASJ AF: 0.222

Gnomad EAS AF: 0.104

Gnomad SAS AF: 0.136

Gnomad FIN AF: 0.290

Gnomad MID AF: 0.316

Gnomad NFE AF: 0.300

Gnomad OTH AF: 0.291

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

GnomAD4 genome AF: 0.271 AC: 41272 AN: 152112 Hom.: 5907 Cov.: 33 AF XY: 0.267 AC XY: 19835 AN XY: 74358

Gnomad4 AFR AF: 0.253

Gnomad4 AMR AF: 0.288

Gnomad4 ASJ AF: 0.222

Gnomad4 EAS AF: 0.104

Gnomad4 SAS AF: 0.135

Gnomad4 FIN AF: 0.290

Gnomad4 NFE AF: 0.300

Gnomad4 OTH AF: 0.290

Alfa AF: 0.279 Hom.: 952

Bravo AF: 0.276

Asia WGS AF: 0.156 AC: 544 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	3.5
DANN	Benign	0.88

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8008758; hg19: chr14-101690045;