rs34518860

Variant names:

• chr6-32626326-G-A
• rs34518860

Your query was ambiguous. Multiple possible variants found:

• chr6-32626326-G-A
• chr6-32626326-G-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 0.11 in 150,406 control chromosomes in the GnomAD database, including 957 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 0.11 (957 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.722
• Publications: 14 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.115 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.110 AC: 16472 AN: 150290 Hom.: 959 Cov.: 27

Gnomad AFR AF: 0.118

Gnomad AMI AF: 0.0606

Gnomad AMR AF: 0.103

Gnomad ASJ AF: 0.127

Gnomad EAS AF: 0.110

Gnomad SAS AF: 0.0888

Gnomad FIN AF: 0.116

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.106

Gnomad OTH AF: 0.119

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

GnomAD4 genome AF: 0.110 AC: 16483 AN: 150406 Hom.: 957 Cov.: 27 AF XY: 0.110 AC XY: 8061 AN XY: 73396

African (AFR) AF: 0.118 AC: 4822 AN: 40906

American (AMR) AF: 0.103 AC: 1541 AN: 15008

Ashkenazi Jewish (ASJ) AF: 0.127 AC: 438 AN: 3448

East Asian (EAS) AF: 0.110 AC: 562 AN: 5114

South Asian (SAS) AF: 0.0884 AC: 419 AN: 4738

European-Finnish (FIN) AF: 0.116 AC: 1194 AN: 10324

Middle Eastern (MID) AF: 0.0680 AC: 20 AN: 294

European-Non Finnish (NFE) AF: 0.106 AC: 7188 AN: 67590

Other (OTH) AF: 0.118 AC: 244 AN: 2076

Alfa AF: 0.115 Hom.: 251

Bravo AF: 0.110

Asia WGS AF: 0.0900 AC: 312 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	7.5
DANN	Benign	0.62
PhyloP100		0.72

Splicing

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

Other links and lift over

dbSNP: rs34518860; hg19: chr6-32594103;