rs1843609

Variant names:

• chr16-35468680-G-A
• rs1843609

Your query was ambiguous. Multiple possible variants found:

• chr16-35468680-G-A
• chr16-35468680-G-T

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 0.355 in 151,884 control chromosomes in the GnomAD database, including 12,021 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 0.36 (12021 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.171
• 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 (NFE) allele frequency at 95% confidence interval = 0.492 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: 0.355 AC: 53952 AN: 151768 Hom.: 12017 Cov.: 33

Gnomad AFR AF: 0.108

Gnomad AMI AF: 0.562

Gnomad AMR AF: 0.445

Gnomad ASJ AF: 0.451

Gnomad EAS AF: 0.0963

Gnomad SAS AF: 0.180

Gnomad FIN AF: 0.445

Gnomad MID AF: 0.386

Gnomad NFE AF: 0.496

Gnomad OTH AF: 0.388

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

GnomAD4 genome AF: 0.355 AC: 53962 AN: 151884 Hom.: 12021 Cov.: 33 AF XY: 0.349 AC XY: 25873 AN XY: 74228

African (AFR) AF: 0.108 AC: 4477 AN: 41538

American (AMR) AF: 0.446 AC: 6793 AN: 15230

Ashkenazi Jewish (ASJ) AF: 0.451 AC: 1561 AN: 3462

East Asian (EAS) AF: 0.0965 AC: 499 AN: 5170

South Asian (SAS) AF: 0.181 AC: 873 AN: 4818

European-Finnish (FIN) AF: 0.445 AC: 4694 AN: 10546

Middle Eastern (MID) AF: 0.395 AC: 116 AN: 294

European-Non Finnish (NFE) AF: 0.496 AC: 33637 AN: 67816

Other (OTH) AF: 0.382 AC: 802 AN: 2102

Alfa AF: 0.269 Hom.: 731

Bravo AF: 0.353

Asia WGS AF: 0.134 AC: 467 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	3.6
DANN	Benign	0.31
PhyloP100		0.17

Splicing

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

Other links and lift over

dbSNP: rs1843609; hg19: chr16-34703051;