rs8007846

Variant names:

• chr14-65796245-A-G
• rs8007846

Your query was ambiguous. Multiple possible variants found:

• chr14-65796245-A-G
• chr14-65796245-A-T

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 0.575 in 151,638 control chromosomes in the GnomAD database, including 26,680 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 0.58 (26680 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.570
• Publications: 20 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.757 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: 0.575 AC: 87155 AN: 151520 Hom.: 26630 Cov.: 30

Gnomad AFR AF: 0.764

Gnomad AMI AF: 0.402

Gnomad AMR AF: 0.542

Gnomad ASJ AF: 0.554

Gnomad EAS AF: 0.765

Gnomad SAS AF: 0.713

Gnomad FIN AF: 0.505

Gnomad MID AF: 0.652

Gnomad NFE AF: 0.457

Gnomad OTH AF: 0.588

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

GnomAD4 genome AF: 0.575 AC: 87255 AN: 151638 Hom.: 26680 Cov.: 30 AF XY: 0.579 AC XY: 42940 AN XY: 74106

African (AFR) AF: 0.764 AC: 31546 AN: 41278

American (AMR) AF: 0.542 AC: 8253 AN: 15214

Ashkenazi Jewish (ASJ) AF: 0.554 AC: 1918 AN: 3464

East Asian (EAS) AF: 0.764 AC: 3932 AN: 5144

South Asian (SAS) AF: 0.713 AC: 3431 AN: 4814

European-Finnish (FIN) AF: 0.505 AC: 5322 AN: 10536

Middle Eastern (MID) AF: 0.660 AC: 194 AN: 294

European-Non Finnish (NFE) AF: 0.457 AC: 31047 AN: 67882

Other (OTH) AF: 0.593 AC: 1248 AN: 2106

Alfa AF: 0.502 Hom.: 90671

Bravo AF: 0.583

Asia WGS AF: 0.739 AC: 2570 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.64
DANN	Benign	0.20
PhyloP100		-0.57

Splicing

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

Other links and lift over

dbSNP: rs8007846; hg19: chr14-66262963;