rs7927997

Variant names:

• chr11-76590331-C-T
• rs7927997

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 0.335 in 152,022 control chromosomes in the GnomAD database, including 8,756 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 0.33 (8756 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.107

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.379 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: 0.335 AC: 50872 AN: 151904 Hom.: 8757 Cov.: 32

Gnomad AFR AF: 0.292

Gnomad AMI AF: 0.605

Gnomad AMR AF: 0.283

Gnomad ASJ AF: 0.466

Gnomad EAS AF: 0.186

Gnomad SAS AF: 0.292

Gnomad FIN AF: 0.291

Gnomad MID AF: 0.291

Gnomad NFE AF: 0.383

Gnomad OTH AF: 0.356

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

GnomAD4 genome AF: 0.335 AC: 50885 AN: 152022 Hom.: 8756 Cov.: 32 AF XY: 0.328 AC XY: 24402 AN XY: 74326

Gnomad4 AFR AF: 0.291

Gnomad4 AMR AF: 0.282

Gnomad4 ASJ AF: 0.466

Gnomad4 EAS AF: 0.186

Gnomad4 SAS AF: 0.293

Gnomad4 FIN AF: 0.291

Gnomad4 NFE AF: 0.383

Gnomad4 OTH AF: 0.355

Alfa AF: 0.371 Hom.: 19993

Bravo AF: 0.335

Asia WGS AF: 0.271 AC: 945 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	0.61
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7927997; hg19: chr11-76301375;