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. Variant got -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

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 (AFR) allele frequency at 95% confidence interval = 0.763 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: 0.686 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

Gnomad4 AFR AF: 0.770

Gnomad4 AMR AF: 0.655

Gnomad4 ASJ AF: 0.597

Gnomad4 EAS AF: 0.759

Gnomad4 SAS AF: 0.728

Gnomad4 FIN AF: 0.657

Gnomad4 NFE AF: 0.643

Gnomad4 OTH AF: 0.663

Alfa AF: 0.642 Hom.: 49242

Bravo AF: 0.685

Asia WGS AF: 0.727 AC: 2531 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10024068; hg19: chr4-186063341;