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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.682

Gnomad4 AMR AF: 0.780

Gnomad4 ASJ AF: 0.727

Gnomad4 EAS AF: 0.546

Gnomad4 SAS AF: 0.755

Gnomad4 FIN AF: 0.683

Gnomad4 NFE AF: 0.696

Gnomad4 OTH AF: 0.704

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4902662; hg19: chr14-69337233;