rs674351

Variant names:

• chr18-50861586-G-A
• rs674351

Your query was ambiguous. Multiple possible variants found:

• chr18-50861586-G-A
• chr18-50861586-G-C

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 0.336 in 151,836 control chromosomes in the GnomAD database, including 8,796 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as no classification for the single variant (no stars).

• Frequency: Genomes: 𝑓 0.34 (8796 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.221
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.369 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: 0.336 AC: 50952 AN: 151718 Hom.: 8787 Cov.: 31

Gnomad AFR AF: 0.295

Gnomad AMI AF: 0.541

Gnomad AMR AF: 0.251

Gnomad ASJ AF: 0.337

Gnomad EAS AF: 0.337

Gnomad SAS AF: 0.198

Gnomad FIN AF: 0.432

Gnomad MID AF: 0.307

Gnomad NFE AF: 0.373

Gnomad OTH AF: 0.315

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

GnomAD4 genome AF: 0.336 AC: 50992 AN: 151836 Hom.: 8796 Cov.: 31 AF XY: 0.333 AC XY: 24705 AN XY: 74176

African (AFR) AF: 0.295 AC: 12213 AN: 41404

American (AMR) AF: 0.250 AC: 3822 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.337 AC: 1170 AN: 3468

East Asian (EAS) AF: 0.337 AC: 1736 AN: 5156

South Asian (SAS) AF: 0.199 AC: 958 AN: 4818

European-Finnish (FIN) AF: 0.432 AC: 4537 AN: 10508

Middle Eastern (MID) AF: 0.299 AC: 88 AN: 294

European-Non Finnish (NFE) AF: 0.373 AC: 25301 AN: 67904

Other (OTH) AF: 0.319 AC: 674 AN: 2114

Alfa AF: 0.343 Hom.: 1150

Bravo AF: 0.326

Asia WGS AF: 0.269 AC: 937 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.4
DANN	Benign	0.50
PhyloP100		0.22

Splicing

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

Other links and lift over

dbSNP: rs674351; hg19: chr18-48387956;