rs1851024

Variant names:

• chr4-71842104-G-A
• rs1851024

Your query was ambiguous. Multiple possible variants found:

• chr4-71842104-G-A
• chr4-71842104-G-C
• chr4-71842104-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 0.928 in 152,150 control chromosomes in the GnomAD database, including 65,798 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 0.93 (65798 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.179
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.974 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: 0.928 AC: 141087 AN: 152032 Hom.: 65772 Cov.: 31

Gnomad AFR AF: 0.837

Gnomad AMI AF: 0.999

Gnomad AMR AF: 0.945

Gnomad ASJ AF: 0.979

Gnomad EAS AF: 0.834

Gnomad SAS AF: 0.922

Gnomad FIN AF: 0.950

Gnomad MID AF: 0.956

Gnomad NFE AF: 0.980

Gnomad OTH AF: 0.935

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

GnomAD4 genome AF: 0.928 AC: 141168 AN: 152150 Hom.: 65798 Cov.: 31 AF XY: 0.927 AC XY: 68927 AN XY: 74372

African (AFR) AF: 0.837 AC: 34729 AN: 41500

American (AMR) AF: 0.945 AC: 14429 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.979 AC: 3395 AN: 3468

East Asian (EAS) AF: 0.834 AC: 4305 AN: 5164

South Asian (SAS) AF: 0.921 AC: 4440 AN: 4822

European-Finnish (FIN) AF: 0.950 AC: 10064 AN: 10598

Middle Eastern (MID) AF: 0.959 AC: 282 AN: 294

European-Non Finnish (NFE) AF: 0.980 AC: 66642 AN: 68012

Other (OTH) AF: 0.934 AC: 1971 AN: 2110

Alfa AF: 0.964 Hom.: 292168

Bravo AF: 0.922

Asia WGS AF: 0.836 AC: 2909 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.90
DANN	Benign	0.50
PhyloP100		-0.18

Splicing

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

Other links and lift over

dbSNP: rs1851024; hg19: chr4-72707821;