rs1800808

Variant names:

• chr1-169631891-A-G
• rs1800808

Your query was ambiguous. Multiple possible variants found:

• chr1-169631891-A-G
• chr1-169631891-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0982 in 152,116 control chromosomes in the GnomAD database, including 929 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 0.098 (929 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0550

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.194 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: 0.0983 AC: 14944 AN: 151998 Hom.: 932 Cov.: 31

Gnomad AFR AF: 0.0324

Gnomad AMI AF: 0.0899

Gnomad AMR AF: 0.0730

Gnomad ASJ AF: 0.185

Gnomad EAS AF: 0.205

Gnomad SAS AF: 0.120

Gnomad FIN AF: 0.125

Gnomad MID AF: 0.169

Gnomad NFE AF: 0.125

Gnomad OTH AF: 0.114

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

GnomAD4 genome AF: 0.0982 AC: 14933 AN: 152116 Hom.: 929 Cov.: 31 AF XY: 0.0979 AC XY: 7282 AN XY: 74382

Gnomad4 AFR AF: 0.0323

Gnomad4 AMR AF: 0.0729

Gnomad4 ASJ AF: 0.185

Gnomad4 EAS AF: 0.204

Gnomad4 SAS AF: 0.120

Gnomad4 FIN AF: 0.125

Gnomad4 NFE AF: 0.125

Gnomad4 OTH AF: 0.111

Alfa AF: 0.103 Hom.: 142

Bravo AF: 0.0934

Asia WGS AF: 0.148 AC: 514 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	5.4
DANN	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1800808; hg19: chr1-169601129;