rs7155603

Variant names:

• chr14-75494193-A-G
• rs7155603

Your query was ambiguous. Multiple possible variants found:

• chr14-75494193-A-G
• chr14-75494193-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 0.244 in 152,016 control chromosomes in the GnomAD database, including 4,695 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 0.24 (4695 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.571

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.284 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: 0.243 AC: 36975 AN: 151898 Hom.: 4677 Cov.: 31

Gnomad AFR AF: 0.273

Gnomad AMI AF: 0.109

Gnomad AMR AF: 0.287

Gnomad ASJ AF: 0.107

Gnomad EAS AF: 0.296

Gnomad SAS AF: 0.205

Gnomad FIN AF: 0.334

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.211

Gnomad OTH AF: 0.215

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

GnomAD4 genome AF: 0.244 AC: 37046 AN: 152016 Hom.: 4695 Cov.: 31 AF XY: 0.251 AC XY: 18682 AN XY: 74292

Gnomad4 AFR AF: 0.273

Gnomad4 AMR AF: 0.287

Gnomad4 ASJ AF: 0.107

Gnomad4 EAS AF: 0.296

Gnomad4 SAS AF: 0.205

Gnomad4 FIN AF: 0.334

Gnomad4 NFE AF: 0.211

Gnomad4 OTH AF: 0.212

Alfa AF: 0.211 Hom.: 3933

Bravo AF: 0.243

Asia WGS AF: 0.264 AC: 918 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	3.8
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7155603; hg19: chr14-75960536;