rs140708

Variant names:

• chr6-170410926-TAAATGGC-T
• rs140708

Your query was ambiguous. Multiple possible variants found:

• chr6-170410926-TAAATGGC-T
• chr6-170410926-TAAATGGC-TAAATGGCAAATGGC

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.81 (51690 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.252
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.91 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: 0.813 AC: 123207 AN: 151582 Hom.: 51650 Cov.: 0

Gnomad AFR AF: 0.918

Gnomad AMI AF: 0.838

Gnomad AMR AF: 0.776

Gnomad ASJ AF: 0.815

Gnomad EAS AF: 0.121

Gnomad SAS AF: 0.651

Gnomad FIN AF: 0.823

Gnomad MID AF: 0.815

Gnomad NFE AF: 0.820

Gnomad OTH AF: 0.798

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

GnomAD4 genome AF: 0.813 AC: 123302 AN: 151698 Hom.: 51690 Cov.: 0 AF XY: 0.806 AC XY: 59778 AN XY: 74126

African (AFR) AF: 0.918 AC: 38032 AN: 41432

American (AMR) AF: 0.775 AC: 11820 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.815 AC: 2825 AN: 3466

East Asian (EAS) AF: 0.121 AC: 627 AN: 5162

South Asian (SAS) AF: 0.652 AC: 3128 AN: 4800

European-Finnish (FIN) AF: 0.823 AC: 8630 AN: 10482

Middle Eastern (MID) AF: 0.805 AC: 235 AN: 292

European-Non Finnish (NFE) AF: 0.820 AC: 55566 AN: 67804

Other (OTH) AF: 0.796 AC: 1678 AN: 2108

Alfa AF: 0.828 Hom.: 5633

Bravo AF: 0.810

Asia WGS AF: 0.434 AC: 1513 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.25

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs140708; hg19: chr6-170720014;