rs8007115

Variant names:

• chr14-94871151-T-C
• rs8007115

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 0.803 in 152,160 control chromosomes in the GnomAD database, including 49,427 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 0.80 (49427 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.884

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.868 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: 0.803 AC: 122139 AN: 152042 Hom.: 49381 Cov.: 32

Gnomad AFR AF: 0.875

Gnomad AMI AF: 0.905

Gnomad AMR AF: 0.841

Gnomad ASJ AF: 0.772

Gnomad EAS AF: 0.769

Gnomad SAS AF: 0.859

Gnomad FIN AF: 0.686

Gnomad MID AF: 0.896

Gnomad NFE AF: 0.767

Gnomad OTH AF: 0.819

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

GnomAD4 genome AF: 0.803 AC: 122241 AN: 152160 Hom.: 49427 Cov.: 32 AF XY: 0.802 AC XY: 59650 AN XY: 74372

Gnomad4 AFR AF: 0.875

Gnomad4 AMR AF: 0.841

Gnomad4 ASJ AF: 0.772

Gnomad4 EAS AF: 0.768

Gnomad4 SAS AF: 0.858

Gnomad4 FIN AF: 0.686

Gnomad4 NFE AF: 0.767

Gnomad4 OTH AF: 0.820

Alfa AF: 0.781 Hom.: 25496

Bravo AF: 0.818

Asia WGS AF: 0.816 AC: 2839 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.083
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8007115; hg19: chr14-95337488;