rs10579103

Positions:

• chr1-163482981-TAC-T
• chr1-163482981-T-TACAC
• chr1-163482981-TACACACACAC-T
• chr1-163482981-T-TAC
• chr1-163482981-TACACACAC-T
• chr1-163482981-TACAC-T
• chr1-163482981-TACACAC-T

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 0.35 (9184 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.228

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.349 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: 0.349 AC: 52521 AN: 150486 Hom.: 9180 Cov.: 0

Gnomad AFR AF: 0.354

Gnomad AMI AF: 0.249

Gnomad AMR AF: 0.334

Gnomad ASJ AF: 0.468

Gnomad EAS AF: 0.311

Gnomad SAS AF: 0.276

Gnomad FIN AF: 0.337

Gnomad MID AF: 0.455

Gnomad NFE AF: 0.353

Gnomad OTH AF: 0.388

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

GnomAD4 genome AF: 0.349 AC: 52552 AN: 150588 Hom.: 9184 Cov.: 0 AF XY: 0.347 AC XY: 25489 AN XY: 73518

Gnomad4 AFR AF: 0.354

Gnomad4 AMR AF: 0.334

Gnomad4 ASJ AF: 0.468

Gnomad4 EAS AF: 0.312

Gnomad4 SAS AF: 0.276

Gnomad4 FIN AF: 0.337

Gnomad4 NFE AF: 0.353

Gnomad4 OTH AF: 0.387

Bravo AF: 0.352

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: rs3045345; hg19: chr1-163452771;