rs8007115

Positions:

• chr14-94871151-T-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 0.803 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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;