chr19-8685011-G-C

Variant names:

• chr19-8685011-G-C
• rs11881691

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.305 AC: 12203 AN: 39996

American (AMR) AF: 0.391 AC: 5773 AN: 14776

Ashkenazi Jewish (ASJ) AF: 0.442 AC: 1523 AN: 3448

East Asian (EAS) AF: 0.692 AC: 3424 AN: 4948

South Asian (SAS) AF: 0.658 AC: 3038 AN: 4620

European-Finnish (FIN) AF: 0.409 AC: 3852 AN: 9416

Middle Eastern (MID) AF: 0.483 AC: 139 AN: 288

European-Non Finnish (NFE) AF: 0.461 AC: 31011 AN: 67276

Other (OTH) AF: 0.425 AC: 864 AN: 2034

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 v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.29
DANN	Benign	0.44
PhyloP100		-0.28

Splicing

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

Other links and lift over

dbSNP: rs11881691; hg19: chr19-8795274;