rs6835151

Variant names:

• chr4-146608057-G-A
• rs6835151

Your query was ambiguous. Multiple possible variants found:

• chr4-146608057-G-A
• chr4-146608057-G-C

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 0.175 in 152,098 control chromosomes in the GnomAD database, including 2,800 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 0.17 (2800 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0230
• Publications: 9 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.29 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: 0.174 AC: 26515 AN: 151980 Hom.: 2795 Cov.: 32

Gnomad AFR AF: 0.294

Gnomad AMI AF: 0.289

Gnomad AMR AF: 0.123

Gnomad ASJ AF: 0.185

Gnomad EAS AF: 0.0476

Gnomad SAS AF: 0.109

Gnomad FIN AF: 0.105

Gnomad MID AF: 0.146

Gnomad NFE AF: 0.136

Gnomad OTH AF: 0.171

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

GnomAD4 genome AF: 0.175 AC: 26543 AN: 152098 Hom.: 2800 Cov.: 32 AF XY: 0.169 AC XY: 12534 AN XY: 74360

African (AFR) AF: 0.294 AC: 12202 AN: 41496

American (AMR) AF: 0.123 AC: 1879 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.185 AC: 640 AN: 3460

East Asian (EAS) AF: 0.0477 AC: 247 AN: 5180

South Asian (SAS) AF: 0.109 AC: 524 AN: 4816

European-Finnish (FIN) AF: 0.105 AC: 1108 AN: 10580

Middle Eastern (MID) AF: 0.150 AC: 44 AN: 294

European-Non Finnish (NFE) AF: 0.137 AC: 9280 AN: 67982

Other (OTH) AF: 0.169 AC: 356 AN: 2112

Alfa AF: 0.141 Hom.: 2867

Bravo AF: 0.182

Asia WGS AF: 0.100 AC: 347 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.6
DANN	Benign	0.33
PhyloP100		0.023

Splicing

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

Other links and lift over

dbSNP: rs6835151; hg19: chr4-147529209;