rs443076

Variant names:

• chr6-121061772-T-C
• rs443076

Your query was ambiguous. Multiple possible variants found:

• chr6-121061772-T-C
• chr6-121061772-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.225 in 136,228 control chromosomes in the GnomAD database, including 4,090 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.22 (4090 hom., cov: 23)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.407

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.403 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: 0.225 AC: 30577 AN: 136184 Hom.: 4087 Cov.: 23

Gnomad AFR AF: 0.409

Gnomad AMI AF: 0.120

Gnomad AMR AF: 0.303

Gnomad ASJ AF: 0.141

Gnomad EAS AF: 0.188

Gnomad SAS AF: 0.173

Gnomad FIN AF: 0.103

Gnomad MID AF: 0.171

Gnomad NFE AF: 0.139

Gnomad OTH AF: 0.221

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

GnomAD4 genome AF: 0.225 AC: 30598 AN: 136228 Hom.: 4090 Cov.: 23 AF XY: 0.224 AC XY: 14758 AN XY: 65862

Gnomad4 AFR AF: 0.409

Gnomad4 AMR AF: 0.303

Gnomad4 ASJ AF: 0.141

Gnomad4 EAS AF: 0.189

Gnomad4 SAS AF: 0.172

Gnomad4 FIN AF: 0.103

Gnomad4 NFE AF: 0.139

Gnomad4 OTH AF: 0.221

Alfa AF: 0.170 Hom.: 180

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.87
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs443076; hg19: chr6-121382918;