rs10024068

Variant names:

• chr4-185142187-G-A
• rs10024068

Your query was ambiguous. Multiple possible variants found:

• chr4-185142187-G-A
• chr4-185142187-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 0.686 in 152,052 control chromosomes in the GnomAD database, including 36,015 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 0.69 (36015 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0260
• Publications: 12 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.763 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.686 AC: 104179 AN: 151934 Hom.: 35961 Cov.: 32

Gnomad AFR AF: 0.770

Gnomad AMI AF: 0.667

Gnomad AMR AF: 0.654

Gnomad ASJ AF: 0.597

Gnomad EAS AF: 0.759

Gnomad SAS AF: 0.728

Gnomad FIN AF: 0.657

Gnomad MID AF: 0.547

Gnomad NFE AF: 0.643

Gnomad OTH AF: 0.660

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

GnomAD4 genome AF: 0.686 AC: 104294 AN: 152052 Hom.: 36015 Cov.: 32 AF XY: 0.685 AC XY: 50916 AN XY: 74278

African (AFR) AF: 0.770 AC: 31954 AN: 41474

American (AMR) AF: 0.655 AC: 10010 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.597 AC: 2073 AN: 3470

East Asian (EAS) AF: 0.759 AC: 3935 AN: 5184

South Asian (SAS) AF: 0.728 AC: 3509 AN: 4820

European-Finnish (FIN) AF: 0.657 AC: 6899 AN: 10508

Middle Eastern (MID) AF: 0.541 AC: 159 AN: 294

European-Non Finnish (NFE) AF: 0.643 AC: 43750 AN: 67994

Other (OTH) AF: 0.663 AC: 1398 AN: 2110

Alfa AF: 0.652 Hom.: 88330

Bravo AF: 0.685

Asia WGS AF: 0.727 AC: 2531 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.97
DANN	Benign	0.58
PhyloP100		0.026

Splicing

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

Other links and lift over

dbSNP: rs10024068; hg19: chr4-186063341;