rs7911500

Variant names:

• chr10-5995763-C-T
• rs7911500

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 0.0787 in 152,246 control chromosomes in the GnomAD database, including 646 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 0.079 (646 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.633

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.114 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: 0.0787 AC: 11979 AN: 152128 Hom.: 646 Cov.: 32

Gnomad AFR AF: 0.0217

Gnomad AMI AF: 0.162

Gnomad AMR AF: 0.0915

Gnomad ASJ AF: 0.164

Gnomad EAS AF: 0.000770

Gnomad SAS AF: 0.0236

Gnomad FIN AF: 0.0636

Gnomad MID AF: 0.155

Gnomad NFE AF: 0.116

Gnomad OTH AF: 0.108

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

GnomAD4 genome AF: 0.0787 AC: 11978 AN: 152246 Hom.: 646 Cov.: 32 AF XY: 0.0751 AC XY: 5587 AN XY: 74442

Gnomad4 AFR AF: 0.0217

Gnomad4 AMR AF: 0.0914

Gnomad4 ASJ AF: 0.164

Gnomad4 EAS AF: 0.000771

Gnomad4 SAS AF: 0.0234

Gnomad4 FIN AF: 0.0636

Gnomad4 NFE AF: 0.116

Gnomad4 OTH AF: 0.107

Alfa AF: 0.113 Hom.: 1505

Bravo AF: 0.0800

Asia WGS AF: 0.0170 AC: 60 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.8
DANN	Benign	0.40

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7911500; hg19: chr10-6037726;