rs140759

chr6-120068309-CAAAG-C

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;