rs4902662

Variant names:

• chr14-68870516-G-C
• rs4902662

Your query was ambiguous. Multiple possible variants found:

• chr14-68870516-G-C
• chr14-68870516-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

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 0.70 (33604 hom., cov: 19)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.46
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.767 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: 0.698 AC: 96972 AN: 138868 Hom.: 33594 Cov.: 19

Gnomad AFR AF: 0.683

Gnomad AMI AF: 0.714

Gnomad AMR AF: 0.779

Gnomad ASJ AF: 0.727

Gnomad EAS AF: 0.547

Gnomad SAS AF: 0.756

Gnomad FIN AF: 0.683

Gnomad MID AF: 0.701

Gnomad NFE AF: 0.696

Gnomad OTH AF: 0.701

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

GnomAD4 genome AF: 0.698 AC: 96994 AN: 138910 Hom.: 33604 Cov.: 19 AF XY: 0.701 AC XY: 46684 AN XY: 66628

African (AFR) AF: 0.682 AC: 25267 AN: 37024

American (AMR) AF: 0.780 AC: 10744 AN: 13778

Ashkenazi Jewish (ASJ) AF: 0.727 AC: 2485 AN: 3420

East Asian (EAS) AF: 0.546 AC: 2437 AN: 4460

South Asian (SAS) AF: 0.755 AC: 3265 AN: 4324

European-Finnish (FIN) AF: 0.683 AC: 4797 AN: 7020

Middle Eastern (MID) AF: 0.691 AC: 188 AN: 272

European-Non Finnish (NFE) AF: 0.696 AC: 45862 AN: 65856

Other (OTH) AF: 0.704 AC: 1318 AN: 1872

Alfa AF: 0.681 Hom.: 3662

Bravo AF: 0.695

Asia WGS AF: 0.701 AC: 2431 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.0
DANN	Benign	0.37
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs4902662; hg19: chr14-69337233;