rs11979455

Variant names:

• chr7-133222893-A-G
• rs11979455

Your query was ambiguous. Multiple possible variants found:

• chr7-133222893-A-G
• chr7-133222893-A-T

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 0.35 in 151,958 control chromosomes in the GnomAD database, including 11,473 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 0.35 (11473 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.449

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.601 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: 0.350 AC: 53114 AN: 151840 Hom.: 11450 Cov.: 32

Gnomad AFR AF: 0.608

Gnomad AMI AF: 0.181

Gnomad AMR AF: 0.230

Gnomad ASJ AF: 0.235

Gnomad EAS AF: 0.516

Gnomad SAS AF: 0.360

Gnomad FIN AF: 0.218

Gnomad MID AF: 0.285

Gnomad NFE AF: 0.236

Gnomad OTH AF: 0.334

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

GnomAD4 genome AF: 0.350 AC: 53181 AN: 151958 Hom.: 11473 Cov.: 32 AF XY: 0.348 AC XY: 25845 AN XY: 74276

Gnomad4 AFR AF: 0.607

Gnomad4 AMR AF: 0.230

Gnomad4 ASJ AF: 0.235

Gnomad4 EAS AF: 0.516

Gnomad4 SAS AF: 0.359

Gnomad4 FIN AF: 0.218

Gnomad4 NFE AF: 0.236

Gnomad4 OTH AF: 0.342

Alfa AF: 0.251 Hom.: 9841

Bravo AF: 0.359

Asia WGS AF: 0.451 AC: 1568 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.80
DANN	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11979455; hg19: chr7-132907651;