rs11881691

Variant names:

• chr19-8685011-G-C
• rs11881691

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 0.421 in 147,700 control chromosomes in the GnomAD database, including 13,853 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 0.42 (13853 hom., cov: 24)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.283

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 (EAS) allele frequency at 95% confidence interval = 0.673 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: 0.421 AC: 62177 AN: 147602 Hom.: 13851 Cov.: 24

Gnomad AFR AF: 0.305

Gnomad AMI AF: 0.408

Gnomad AMR AF: 0.391

Gnomad ASJ AF: 0.442

Gnomad EAS AF: 0.691

Gnomad SAS AF: 0.658

Gnomad FIN AF: 0.409

Gnomad MID AF: 0.490

Gnomad NFE AF: 0.461

Gnomad OTH AF: 0.423

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

GnomAD4 genome AF: 0.421 AC: 62193 AN: 147700 Hom.: 13853 Cov.: 24 AF XY: 0.422 AC XY: 30201 AN XY: 71562

Gnomad4 AFR AF: 0.305

Gnomad4 AMR AF: 0.391

Gnomad4 ASJ AF: 0.442

Gnomad4 EAS AF: 0.692

Gnomad4 SAS AF: 0.658

Gnomad4 FIN AF: 0.409

Gnomad4 NFE AF: 0.461

Gnomad4 OTH AF: 0.425

Alfa AF: 0.439 Hom.: 1874

Bravo AF: 0.415

Asia WGS AF: 0.647 AC: 2246 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.29
DANN	Benign	0.44

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11881691; hg19: chr19-8795274;