rs6833142

Variant names:

• chr4-10274358-A-G
• rs6833142

Your query was ambiguous. Multiple possible variants found:

• chr4-10274358-A-G
• chr4-10274358-A-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 0.689 in 151,968 control chromosomes in the GnomAD database, including 36,280 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 (36280 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -4.62

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.705 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: 0.689 AC: 104672 AN: 151850 Hom.: 36250 Cov.: 31

Gnomad AFR AF: 0.687

Gnomad AMI AF: 0.669

Gnomad AMR AF: 0.690

Gnomad ASJ AF: 0.795

Gnomad EAS AF: 0.507

Gnomad SAS AF: 0.725

Gnomad FIN AF: 0.655

Gnomad MID AF: 0.731

Gnomad NFE AF: 0.701

Gnomad OTH AF: 0.708

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

GnomAD4 genome AF: 0.689 AC: 104751 AN: 151968 Hom.: 36280 Cov.: 31 AF XY: 0.687 AC XY: 51018 AN XY: 74254

Gnomad4 AFR AF: 0.687

Gnomad4 AMR AF: 0.691

Gnomad4 ASJ AF: 0.795

Gnomad4 EAS AF: 0.506

Gnomad4 SAS AF: 0.725

Gnomad4 FIN AF: 0.655

Gnomad4 NFE AF: 0.701

Gnomad4 OTH AF: 0.706

Alfa AF: 0.694 Hom.: 16784

Bravo AF: 0.693

Asia WGS AF: 0.629 AC: 2185 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.011
DANN	Benign	0.23

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6833142; hg19: chr4-10275982;