chr11-67444098-T-C

Variant names:

• chr11-67444098-T-C
• rs1808279

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 0.523 in 150,238 control chromosomes in the GnomAD database, including 22,913 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 0.52 (22913 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.966

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 = 0.796 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: 0.523 AC: 78456 AN: 150124 Hom.: 22880 Cov.: 26

Gnomad AFR AF: 0.804

Gnomad AMI AF: 0.370

Gnomad AMR AF: 0.507

Gnomad ASJ AF: 0.323

Gnomad EAS AF: 0.296

Gnomad SAS AF: 0.255

Gnomad FIN AF: 0.372

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.429

Gnomad OTH AF: 0.474

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

GnomAD4 genome AF: 0.523 AC: 78533 AN: 150238 Hom.: 22913 Cov.: 26 AF XY: 0.512 AC XY: 37509 AN XY: 73330

Gnomad4 AFR AF: 0.804

Gnomad4 AMR AF: 0.506

Gnomad4 ASJ AF: 0.323

Gnomad4 EAS AF: 0.296

Gnomad4 SAS AF: 0.254

Gnomad4 FIN AF: 0.372

Gnomad4 NFE AF: 0.429

Gnomad4 OTH AF: 0.471

Alfa AF: 0.477 Hom.: 2372

Bravo AF: 0.550

Asia WGS AF: 0.352 AC: 1227 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	3.1
DANN	Benign	0.13

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1808279; hg19: chr11-67211569;