7-132023522-T-C

Variant names:

• chr7-132023522-T-C
• rs7811818

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 0.867 in 152,218 control chromosomes in the GnomAD database, including 57,371 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 0.87 (57371 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.926

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.963 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: 0.866 AC: 131788 AN: 152100 Hom.: 57311 Cov.: 32

Gnomad AFR AF: 0.917

Gnomad AMI AF: 0.751

Gnomad AMR AF: 0.879

Gnomad ASJ AF: 0.802

Gnomad EAS AF: 0.985

Gnomad SAS AF: 0.908

Gnomad FIN AF: 0.847

Gnomad MID AF: 0.823

Gnomad NFE AF: 0.830

Gnomad OTH AF: 0.849

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

GnomAD4 genome AF: 0.867 AC: 131911 AN: 152218 Hom.: 57371 Cov.: 32 AF XY: 0.868 AC XY: 64584 AN XY: 74424

Gnomad4 AFR AF: 0.917

Gnomad4 AMR AF: 0.879

Gnomad4 ASJ AF: 0.802

Gnomad4 EAS AF: 0.985

Gnomad4 SAS AF: 0.908

Gnomad4 FIN AF: 0.847

Gnomad4 NFE AF: 0.829

Gnomad4 OTH AF: 0.852

Alfa AF: 0.848 Hom.: 14053

Bravo AF: 0.871

Asia WGS AF: 0.930 AC: 3234 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.5
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: rs7811818; hg19: chr7-131708281;