rs10024068

chr4-185142187-G-Achr4-185142187-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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;