rs1595273

Variant names:

• chr18-40697151-G-A
• rs1595273

Your query was ambiguous. Multiple possible variants found:

• chr18-40697151-G-A
• chr18-40697151-G-C
• chr18-40697151-G-T

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 0.346 in 151,948 control chromosomes in the GnomAD database, including 9,989 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 0.35 (9989 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.74
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.731 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: 0.346 AC: 52575 AN: 151830 Hom.: 9983 Cov.: 32

Gnomad AFR AF: 0.262

Gnomad AMI AF: 0.431

Gnomad AMR AF: 0.417

Gnomad ASJ AF: 0.312

Gnomad EAS AF: 0.751

Gnomad SAS AF: 0.602

Gnomad FIN AF: 0.353

Gnomad MID AF: 0.380

Gnomad NFE AF: 0.332

Gnomad OTH AF: 0.351

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

GnomAD4 genome AF: 0.346 AC: 52612 AN: 151948 Hom.: 9989 Cov.: 32 AF XY: 0.357 AC XY: 26518 AN XY: 74248

African (AFR) AF: 0.263 AC: 10888 AN: 41478

American (AMR) AF: 0.416 AC: 6353 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.312 AC: 1083 AN: 3470

East Asian (EAS) AF: 0.750 AC: 3868 AN: 5154

South Asian (SAS) AF: 0.602 AC: 2888 AN: 4800

European-Finnish (FIN) AF: 0.353 AC: 3711 AN: 10520

Middle Eastern (MID) AF: 0.384 AC: 113 AN: 294

European-Non Finnish (NFE) AF: 0.332 AC: 22565 AN: 67952

Other (OTH) AF: 0.357 AC: 751 AN: 2102

Alfa AF: 0.244 Hom.: 859

Bravo AF: 0.344

Asia WGS AF: 0.688 AC: 2394 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.014
DANN	Benign	0.36
PhyloP100		-2.7

Splicing

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

Other links and lift over

dbSNP: rs1595273; hg19: chr18-38277115;