rs7742369

Variant names:

• chr6-34197944-A-G
• rs7742369

Your query was ambiguous. Multiple possible variants found:

• chr6-34197944-A-G
• chr6-34197944-A-T

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 0.292 in 152,076 control chromosomes in the GnomAD database, including 8,703 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 0.29 (8703 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00
• Publications: 34 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.548 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: 0.292 AC: 44317 AN: 151958 Hom.: 8669 Cov.: 31

Gnomad AFR AF: 0.554

Gnomad AMI AF: 0.228

Gnomad AMR AF: 0.331

Gnomad ASJ AF: 0.190

Gnomad EAS AF: 0.125

Gnomad SAS AF: 0.128

Gnomad FIN AF: 0.135

Gnomad MID AF: 0.177

Gnomad NFE AF: 0.179

Gnomad OTH AF: 0.287

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

GnomAD4 genome AF: 0.292 AC: 44406 AN: 152076 Hom.: 8703 Cov.: 31 AF XY: 0.286 AC XY: 21297 AN XY: 74348

African (AFR) AF: 0.554 AC: 22951 AN: 41442

American (AMR) AF: 0.332 AC: 5064 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.190 AC: 659 AN: 3470

East Asian (EAS) AF: 0.125 AC: 646 AN: 5184

South Asian (SAS) AF: 0.128 AC: 619 AN: 4818

European-Finnish (FIN) AF: 0.135 AC: 1431 AN: 10580

Middle Eastern (MID) AF: 0.187 AC: 55 AN: 294

European-Non Finnish (NFE) AF: 0.179 AC: 12172 AN: 67992

Other (OTH) AF: 0.285 AC: 602 AN: 2112

Alfa AF: 0.212 Hom.: 20000

Bravo AF: 0.324

Asia WGS AF: 0.202 AC: 705 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	3.7
DANN	Benign	0.37
PhyloP100		0.0

Splicing

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

Other links and lift over

dbSNP: rs7742369; hg19: chr6-34165721;