6-151634850-A-G

Variant names:

• chr6-151634850-A-G
• rs60705924

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 0.41 in 149,086 control chromosomes in the GnomAD database, including 14,643 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 0.41 (14643 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.138
• Publications: 7 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 = 0.665 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.410 AC: 61062 AN: 148988 Hom.: 14621 Cov.: 26

Gnomad AFR AF: 0.671

Gnomad AMI AF: 0.294

Gnomad AMR AF: 0.288

Gnomad ASJ AF: 0.323

Gnomad EAS AF: 0.350

Gnomad SAS AF: 0.352

Gnomad FIN AF: 0.202

Gnomad MID AF: 0.408

Gnomad NFE AF: 0.324

Gnomad OTH AF: 0.408

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

GnomAD4 genome AF: 0.410 AC: 61115 AN: 149086 Hom.: 14643 Cov.: 26 AF XY: 0.402 AC XY: 29187 AN XY: 72538

African (AFR) AF: 0.671 AC: 27246 AN: 40594

American (AMR) AF: 0.287 AC: 4283 AN: 14902

Ashkenazi Jewish (ASJ) AF: 0.323 AC: 1117 AN: 3460

East Asian (EAS) AF: 0.350 AC: 1781 AN: 5088

South Asian (SAS) AF: 0.352 AC: 1654 AN: 4702

European-Finnish (FIN) AF: 0.202 AC: 1925 AN: 9546

Middle Eastern (MID) AF: 0.408 AC: 119 AN: 292

European-Non Finnish (NFE) AF: 0.324 AC: 21883 AN: 67536

Other (OTH) AF: 0.408 AC: 841 AN: 2062

Alfa AF: 0.349 Hom.: 3212

Bravo AF: 0.425

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.5
DANN	Benign	0.76
PhyloP100		-0.14

Splicing

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

Other links and lift over

dbSNP: rs60705924; hg19: chr6-151955985;