rs8007115

Variant names:

• chr14-94871151-T-C
• rs8007115

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.875 AC: 36363 AN: 41534

American (AMR) AF: 0.841 AC: 12847 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.772 AC: 2679 AN: 3472

East Asian (EAS) AF: 0.768 AC: 3980 AN: 5182

South Asian (SAS) AF: 0.858 AC: 4136 AN: 4818

European-Finnish (FIN) AF: 0.686 AC: 7239 AN: 10554

Middle Eastern (MID) AF: 0.901 AC: 265 AN: 294

European-Non Finnish (NFE) AF: 0.767 AC: 52174 AN: 67996

Other (OTH) AF: 0.820 AC: 1733 AN: 2114

Alfa AF: 0.781 Hom.: 28116

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
PhyloP100		-0.88

Splicing

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

Other links and lift over

dbSNP: rs8007115; hg19: chr14-95337488;