rs8007846

chr14-65796245-A-Gchr14-65796245-A-T

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 0.575 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.764

Gnomad4 AMR AF: 0.542

Gnomad4 ASJ AF: 0.554

Gnomad4 EAS AF: 0.764

Gnomad4 SAS AF: 0.713

Gnomad4 FIN AF: 0.505

Gnomad4 NFE AF: 0.457

Gnomad4 OTH AF: 0.593

Alfa AF: 0.495 Hom.: 44298

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8007846; hg19: chr14-66262963;