rs1800955

Variant names:

• chr11-636784-T-C
• rs1800955

Your query was ambiguous. Multiple possible variants found:

• chr11-636784-T-C
• chr11-636784-T-G

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 0.427 in 147,208 control chromosomes in the GnomAD database, including 13,621 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 0.43 (13621 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.559

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.445 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: 0.427 AC: 62856 AN: 147106 Hom.: 13615 Cov.: 26

Gnomad AFR AF: 0.400

Gnomad AMI AF: 0.292

Gnomad AMR AF: 0.391

Gnomad ASJ AF: 0.546

Gnomad EAS AF: 0.384

Gnomad SAS AF: 0.428

Gnomad FIN AF: 0.425

Gnomad MID AF: 0.452

Gnomad NFE AF: 0.450

Gnomad OTH AF: 0.461

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

GnomAD4 genome AF: 0.427 AC: 62895 AN: 147208 Hom.: 13621 Cov.: 26 AF XY: 0.426 AC XY: 30532 AN XY: 71648

Gnomad4 AFR AF: 0.400

Gnomad4 AMR AF: 0.390

Gnomad4 ASJ AF: 0.546

Gnomad4 EAS AF: 0.384

Gnomad4 SAS AF: 0.427

Gnomad4 FIN AF: 0.425

Gnomad4 NFE AF: 0.450

Gnomad4 OTH AF: 0.461

Alfa AF: 0.431 Hom.: 2190

Bravo AF: 0.423

Asia WGS AF: 0.403 AC: 1400 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.69
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1800955; hg19: chr11-636784; COSMIC: COSV51563474;