rs337718

Variant names:

• chr18-72107043-T-C
• rs337718

Your query was ambiguous. Multiple possible variants found:

• chr18-72107043-T-C
• chr18-72107043-T-G

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 0.675 in 152,064 control chromosomes in the GnomAD database, including 34,861 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 0.67 (34861 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.181
• Publications: 9 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 = 0.699 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.675 AC: 102563 AN: 151946 Hom.: 34839 Cov.: 33

Gnomad AFR AF: 0.607

Gnomad AMI AF: 0.762

Gnomad AMR AF: 0.669

Gnomad ASJ AF: 0.703

Gnomad EAS AF: 0.678

Gnomad SAS AF: 0.678

Gnomad FIN AF: 0.749

Gnomad MID AF: 0.611

Gnomad NFE AF: 0.704

Gnomad OTH AF: 0.663

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

GnomAD4 genome AF: 0.675 AC: 102623 AN: 152064 Hom.: 34861 Cov.: 33 AF XY: 0.677 AC XY: 50347 AN XY: 74350

African (AFR) AF: 0.606 AC: 25113 AN: 41432

American (AMR) AF: 0.669 AC: 10219 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.703 AC: 2439 AN: 3470

East Asian (EAS) AF: 0.679 AC: 3515 AN: 5178

South Asian (SAS) AF: 0.679 AC: 3275 AN: 4824

European-Finnish (FIN) AF: 0.749 AC: 7929 AN: 10580

Middle Eastern (MID) AF: 0.605 AC: 178 AN: 294

European-Non Finnish (NFE) AF: 0.704 AC: 47851 AN: 67988

Other (OTH) AF: 0.668 AC: 1409 AN: 2108

Alfa AF: 0.697 Hom.: 56846

Bravo AF: 0.667

Asia WGS AF: 0.715 AC: 2485 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	7.0
DANN	Benign	0.36
PhyloP100		0.18

Splicing

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

Other links and lift over

dbSNP: rs337718; hg19: chr18-69774278;