rs34885482

Variant names:

• chr16-57357022-G-A
• rs34885482

Your query was ambiguous. Multiple possible variants found:

• chr16-57357022-G-A
• chr16-57357022-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 0.13 in 152,100 control chromosomes in the GnomAD database, including 1,550 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 0.13 (1550 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.342
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.267 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: 0.130 AC: 19795 AN: 151982 Hom.: 1555 Cov.: 31

Gnomad AFR AF: 0.0499

Gnomad AMI AF: 0.0923

Gnomad AMR AF: 0.124

Gnomad ASJ AF: 0.165

Gnomad EAS AF: 0.279

Gnomad SAS AF: 0.213

Gnomad FIN AF: 0.108

Gnomad MID AF: 0.212

Gnomad NFE AF: 0.165

Gnomad OTH AF: 0.138

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

GnomAD4 genome AF: 0.130 AC: 19781 AN: 152100 Hom.: 1550 Cov.: 31 AF XY: 0.130 AC XY: 9641 AN XY: 74344

African (AFR) AF: 0.0499 AC: 2071 AN: 41504

American (AMR) AF: 0.124 AC: 1895 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.165 AC: 571 AN: 3466

East Asian (EAS) AF: 0.279 AC: 1442 AN: 5172

South Asian (SAS) AF: 0.213 AC: 1022 AN: 4806

European-Finnish (FIN) AF: 0.108 AC: 1145 AN: 10560

Middle Eastern (MID) AF: 0.197 AC: 58 AN: 294

European-Non Finnish (NFE) AF: 0.165 AC: 11208 AN: 67996

Other (OTH) AF: 0.135 AC: 285 AN: 2104

Alfa AF: 0.117 Hom.: 436

Bravo AF: 0.129

Asia WGS AF: 0.212 AC: 734 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	2.4
DANN	Benign	0.55
PhyloP100		0.34

Splicing

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

Other links and lift over

dbSNP: rs34885482; hg19: chr16-57390934;