rs140709

Variant names:

• chr6-12213177-CATT-C
• rs140709

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

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

• Frequency: Genomes: 𝑓 0.31 (8730 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.839

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.421 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: 0.312 AC: 47123 AN: 151256 Hom.: 8730 Cov.: 0

Gnomad AFR AF: 0.0962

Gnomad AMI AF: 0.408

Gnomad AMR AF: 0.429

Gnomad ASJ AF: 0.316

Gnomad EAS AF: 0.271

Gnomad SAS AF: 0.434

Gnomad FIN AF: 0.435

Gnomad MID AF: 0.237

Gnomad NFE AF: 0.391

Gnomad OTH AF: 0.287

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

GnomAD4 genome AF: 0.311 AC: 47131 AN: 151366 Hom.: 8730 Cov.: 0 AF XY: 0.315 AC XY: 23270 AN XY: 73902

Gnomad4 AFR AF: 0.0961

Gnomad4 AMR AF: 0.430

Gnomad4 ASJ AF: 0.316

Gnomad4 EAS AF: 0.271

Gnomad4 SAS AF: 0.435

Gnomad4 FIN AF: 0.435

Gnomad4 NFE AF: 0.391

Gnomad4 OTH AF: 0.285

Alfa AF: 0.332 Hom.: 911

Asia WGS AF: 0.323 AC: 1123 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs140709; hg19: chr6-12213410;