rs7155941

Variant names:

• chr14-42142757-A-G
• rs7155941

Your query was ambiguous. Multiple possible variants found:

• chr14-42142757-A-G
• chr14-42142757-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 0.738 in 151,950 control chromosomes in the GnomAD database, including 41,387 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 0.74 (41387 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.29

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 (EAS) allele frequency at 95% confidence interval = 0.857 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: 0.738 AC: 112000 AN: 151830 Hom.: 41351 Cov.: 30

Gnomad AFR AF: 0.738

Gnomad AMI AF: 0.579

Gnomad AMR AF: 0.740

Gnomad ASJ AF: 0.644

Gnomad EAS AF: 0.878

Gnomad SAS AF: 0.737

Gnomad FIN AF: 0.781

Gnomad MID AF: 0.718

Gnomad NFE AF: 0.727

Gnomad OTH AF: 0.731

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

GnomAD4 genome AF: 0.738 AC: 112096 AN: 151950 Hom.: 41387 Cov.: 30 AF XY: 0.741 AC XY: 55018 AN XY: 74272

Gnomad4 AFR AF: 0.738

Gnomad4 AMR AF: 0.739

Gnomad4 ASJ AF: 0.644

Gnomad4 EAS AF: 0.878

Gnomad4 SAS AF: 0.736

Gnomad4 FIN AF: 0.781

Gnomad4 NFE AF: 0.727

Gnomad4 OTH AF: 0.735

Alfa AF: 0.730 Hom.: 14216

Bravo AF: 0.733

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.055
DANN	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7155941; hg19: chr14-42611960;