rs7077836

Variant names:

• chr10-130953235-G-A
• rs7077836

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 0.151 in 152,188 control chromosomes in the GnomAD database, including 1,980 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 0.15 (1980 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.07

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.378 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: 0.151 AC: 23029 AN: 152070 Hom.: 1983 Cov.: 33

Gnomad AFR AF: 0.125

Gnomad AMI AF: 0.207

Gnomad AMR AF: 0.123

Gnomad ASJ AF: 0.121

Gnomad EAS AF: 0.393

Gnomad SAS AF: 0.152

Gnomad FIN AF: 0.197

Gnomad MID AF: 0.108

Gnomad NFE AF: 0.150

Gnomad OTH AF: 0.141

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

GnomAD4 genome AF: 0.151 AC: 23036 AN: 152188 Hom.: 1980 Cov.: 33 AF XY: 0.153 AC XY: 11404 AN XY: 74404

Gnomad4 AFR AF: 0.125

Gnomad4 AMR AF: 0.123

Gnomad4 ASJ AF: 0.121

Gnomad4 EAS AF: 0.392

Gnomad4 SAS AF: 0.152

Gnomad4 FIN AF: 0.197

Gnomad4 NFE AF: 0.150

Gnomad4 OTH AF: 0.143

Alfa AF: 0.139 Hom.: 233

Bravo AF: 0.146

Asia WGS AF: 0.244 AC: 847 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.12
DANN	Benign	0.62

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7077836; hg19: chr10-132751498;