rs7636114

Variant names:

• chr3-189370916-G-C
• rs7636114

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 0.0849 in 152,240 control chromosomes in the GnomAD database, including 719 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 0.085 (719 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.799

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.152 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: 0.0848 AC: 12896 AN: 152122 Hom.: 713 Cov.: 31

Gnomad AFR AF: 0.0198

Gnomad AMI AF: 0.0592

Gnomad AMR AF: 0.154

Gnomad ASJ AF: 0.0954

Gnomad EAS AF: 0.0408

Gnomad SAS AF: 0.161

Gnomad FIN AF: 0.0593

Gnomad MID AF: 0.0823

Gnomad NFE AF: 0.110

Gnomad OTH AF: 0.0993

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

GnomAD4 genome AF: 0.0849 AC: 12923 AN: 152240 Hom.: 719 Cov.: 31 AF XY: 0.0849 AC XY: 6317 AN XY: 74424

Gnomad4 AFR AF: 0.0198

Gnomad4 AMR AF: 0.154

Gnomad4 ASJ AF: 0.0954

Gnomad4 EAS AF: 0.0409

Gnomad4 SAS AF: 0.162

Gnomad4 FIN AF: 0.0593

Gnomad4 NFE AF: 0.110

Gnomad4 OTH AF: 0.103

Alfa AF: 0.0992 Hom.: 107

Bravo AF: 0.0874

Asia WGS AF: 0.103 AC: 360 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	6.2
DANN	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7636114; hg19: chr3-189088705;