chr8-71649507-C-T

Variant names:

• chr8-71649507-C-T
• rs7834018

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 0.823 in 152,118 control chromosomes in the GnomAD database, including 52,046 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 0.82 (52046 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.724

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.898 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: 0.823 AC: 125075 AN: 152000 Hom.: 52018 Cov.: 31

Gnomad AFR AF: 0.749

Gnomad AMI AF: 0.936

Gnomad AMR AF: 0.758

Gnomad ASJ AF: 0.831

Gnomad EAS AF: 0.645

Gnomad SAS AF: 0.663

Gnomad FIN AF: 0.831

Gnomad MID AF: 0.839

Gnomad NFE AF: 0.904

Gnomad OTH AF: 0.823

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

GnomAD4 genome AF: 0.823 AC: 125161 AN: 152118 Hom.: 52046 Cov.: 31 AF XY: 0.814 AC XY: 60586 AN XY: 74392

Gnomad4 AFR AF: 0.749

Gnomad4 AMR AF: 0.757

Gnomad4 ASJ AF: 0.831

Gnomad4 EAS AF: 0.645

Gnomad4 SAS AF: 0.664

Gnomad4 FIN AF: 0.831

Gnomad4 NFE AF: 0.904

Gnomad4 OTH AF: 0.823

Alfa AF: 0.885 Hom.: 75672

Bravo AF: 0.819

Asia WGS AF: 0.644 AC: 2240 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.13
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7834018; hg19: chr8-72561742;