rs7928097

Variant names:

• chr11-127629856-T-C
• rs7928097

Your query was ambiguous. Multiple possible variants found:

• chr11-127629856-T-C
• chr11-127629856-T-G

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 0.206 in 152,074 control chromosomes in the GnomAD database, including 4,043 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 0.21 (4043 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.26

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 (AFR) allele frequency at 95% confidence interval = 0.366 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: 0.206 AC: 31264 AN: 151956 Hom.: 4037 Cov.: 32

Gnomad AFR AF: 0.371

Gnomad AMI AF: 0.174

Gnomad AMR AF: 0.103

Gnomad ASJ AF: 0.100

Gnomad EAS AF: 0.0964

Gnomad SAS AF: 0.151

Gnomad FIN AF: 0.229

Gnomad MID AF: 0.168

Gnomad NFE AF: 0.144

Gnomad OTH AF: 0.187

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

GnomAD4 genome AF: 0.206 AC: 31306 AN: 152074 Hom.: 4043 Cov.: 32 AF XY: 0.208 AC XY: 15446 AN XY: 74324

Gnomad4 AFR AF: 0.371

Gnomad4 AMR AF: 0.103

Gnomad4 ASJ AF: 0.100

Gnomad4 EAS AF: 0.0964

Gnomad4 SAS AF: 0.150

Gnomad4 FIN AF: 0.229

Gnomad4 NFE AF: 0.144

Gnomad4 OTH AF: 0.187

Alfa AF: 0.139 Hom.: 1609

Bravo AF: 0.207

Asia WGS AF: 0.129 AC: 447 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.65
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: rs7928097; hg19: chr11-127499751;