chr6-43768800-T-TG

Variant names:

• chr6-43768800-T-TG
• rs35864111

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 0.60 (28121 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.536

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.782 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: 0.597 AC: 90313 AN: 151200 Hom.: 28091 Cov.: 0

Gnomad AFR AF: 0.789

Gnomad AMI AF: 0.279

Gnomad AMR AF: 0.613

Gnomad ASJ AF: 0.538

Gnomad EAS AF: 0.726

Gnomad SAS AF: 0.555

Gnomad FIN AF: 0.446

Gnomad MID AF: 0.538

Gnomad NFE AF: 0.501

Gnomad OTH AF: 0.617

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

GnomAD4 genome AF: 0.597 AC: 90401 AN: 151318 Hom.: 28121 Cov.: 0 AF XY: 0.595 AC XY: 43960 AN XY: 73878

Gnomad4 AFR AF: 0.789

Gnomad4 AMR AF: 0.613

Gnomad4 ASJ AF: 0.538

Gnomad4 EAS AF: 0.726

Gnomad4 SAS AF: 0.553

Gnomad4 FIN AF: 0.446

Gnomad4 NFE AF: 0.501

Gnomad4 OTH AF: 0.618

Alfa AF: 0.448 Hom.: 940

Asia WGS AF: 0.611 AC: 2123 AN: 3478

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: rs35864111; hg19: chr6-43736537;