rs140759

Variant names:

• chr6-120068309-CAAAG-C
• rs140759

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 (7740 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.65

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.356 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: 0.314 AC: 47350 AN: 150794 Hom.: 7734 Cov.: 0

Gnomad AFR AF: 0.255

Gnomad AMI AF: 0.540

Gnomad AMR AF: 0.363

Gnomad ASJ AF: 0.345

Gnomad EAS AF: 0.236

Gnomad SAS AF: 0.279

Gnomad FIN AF: 0.231

Gnomad MID AF: 0.280

Gnomad NFE AF: 0.357

Gnomad OTH AF: 0.302

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

GnomAD4 genome AF: 0.314 AC: 47365 AN: 150912 Hom.: 7740 Cov.: 0 AF XY: 0.309 AC XY: 22758 AN XY: 73762

Gnomad4 AFR AF: 0.254

Gnomad4 AMR AF: 0.364

Gnomad4 ASJ AF: 0.345

Gnomad4 EAS AF: 0.236

Gnomad4 SAS AF: 0.279

Gnomad4 FIN AF: 0.231

Gnomad4 NFE AF: 0.357

Gnomad4 OTH AF: 0.299

Alfa AF: 0.342 Hom.: 1050

Bravo AF: 0.319

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: rs140759; hg19: chr6-120389455;