rs4800136

Variant names:

• chr18-22642405-A-C
• rs4800136

Your query was ambiguous. Multiple possible variants found:

• chr18-22642405-A-C
• chr18-22642405-A-G
• chr18-22642405-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 0.986 in 152,260 control chromosomes in the GnomAD database, including 74,076 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 0.99 (74076 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.188

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.991 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: 0.986 AC: 150056 AN: 152142 Hom.: 74032 Cov.: 31

Gnomad AFR AF: 0.969

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.995

Gnomad ASJ AF: 0.986

Gnomad EAS AF: 0.965

Gnomad SAS AF: 0.937

Gnomad FIN AF: 0.998

Gnomad MID AF: 0.981

Gnomad NFE AF: 0.998

Gnomad OTH AF: 0.988

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

GnomAD4 genome AF: 0.986 AC: 150159 AN: 152260 Hom.: 74076 Cov.: 31 AF XY: 0.985 AC XY: 73348 AN XY: 74432

Gnomad4 AFR AF: 0.969

Gnomad4 AMR AF: 0.995

Gnomad4 ASJ AF: 0.986

Gnomad4 EAS AF: 0.965

Gnomad4 SAS AF: 0.937

Gnomad4 FIN AF: 0.998

Gnomad4 NFE AF: 0.998

Gnomad4 OTH AF: 0.984

Alfa AF: 0.995 Hom.: 62905

Bravo AF: 0.987

Asia WGS AF: 0.941 AC: 3270 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	3.9
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4800136; hg19: chr18-20222368;