rs1848550

Variant names:

• chr17-6842322-A-G
• rs1848550

Your query was ambiguous. Multiple possible variants found:

• chr17-6842322-A-G
• chr17-6842322-A-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 0.489 in 151,898 control chromosomes in the GnomAD database, including 18,299 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 0.49 (18299 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.21
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.579 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: 0.489 AC: 74273 AN: 151780 Hom.: 18295 Cov.: 31

Gnomad AFR AF: 0.508

Gnomad AMI AF: 0.535

Gnomad AMR AF: 0.502

Gnomad ASJ AF: 0.503

Gnomad EAS AF: 0.596

Gnomad SAS AF: 0.504

Gnomad FIN AF: 0.536

Gnomad MID AF: 0.525

Gnomad NFE AF: 0.457

Gnomad OTH AF: 0.505

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

GnomAD4 genome AF: 0.489 AC: 74307 AN: 151898 Hom.: 18299 Cov.: 31 AF XY: 0.493 AC XY: 36602 AN XY: 74248

African (AFR) AF: 0.507 AC: 20994 AN: 41380

American (AMR) AF: 0.502 AC: 7666 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.503 AC: 1747 AN: 3472

East Asian (EAS) AF: 0.597 AC: 3077 AN: 5156

South Asian (SAS) AF: 0.505 AC: 2429 AN: 4814

European-Finnish (FIN) AF: 0.536 AC: 5658 AN: 10556

Middle Eastern (MID) AF: 0.520 AC: 153 AN: 294

European-Non Finnish (NFE) AF: 0.457 AC: 31033 AN: 67942

Other (OTH) AF: 0.506 AC: 1063 AN: 2102

Alfa AF: 0.471 Hom.: 23577

Bravo AF: 0.491

Asia WGS AF: 0.508 AC: 1763 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.15
DANN	Benign	0.32
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs1848550; hg19: chr17-6745641;