rs949083

Variant names:

• chr11-79634818-T-C
• rs949083

Your query was ambiguous. Multiple possible variants found:

• chr11-79634818-T-C
• chr11-79634818-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 0.351 in 152,092 control chromosomes in the GnomAD database, including 9,868 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 (9868 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.13

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 (AFR) allele frequency at 95% confidence interval = 0.431 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: 0.351 AC: 53390 AN: 151974 Hom.: 9872 Cov.: 33

Gnomad AFR AF: 0.437

Gnomad AMI AF: 0.444

Gnomad AMR AF: 0.292

Gnomad ASJ AF: 0.384

Gnomad EAS AF: 0.0973

Gnomad SAS AF: 0.406

Gnomad FIN AF: 0.227

Gnomad MID AF: 0.459

Gnomad NFE AF: 0.344

Gnomad OTH AF: 0.366

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

GnomAD4 genome AF: 0.351 AC: 53398 AN: 152092 Hom.: 9868 Cov.: 33 AF XY: 0.347 AC XY: 25779 AN XY: 74380

Gnomad4 AFR AF: 0.437

Gnomad4 AMR AF: 0.291

Gnomad4 ASJ AF: 0.384

Gnomad4 EAS AF: 0.0963

Gnomad4 SAS AF: 0.406

Gnomad4 FIN AF: 0.227

Gnomad4 NFE AF: 0.344

Gnomad4 OTH AF: 0.363

Alfa AF: 0.353 Hom.: 13022

Bravo AF: 0.355

Asia WGS AF: 0.258 AC: 898 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	0.21
DANN	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs949083; hg19: chr11-79345862;