rs7773043

Variant names:

• chr6-100473239-G-A
• rs7773043

Your query was ambiguous. Multiple possible variants found:

• chr6-100473239-G-A
• chr6-100473239-G-C

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 0.543 in 152,020 control chromosomes in the GnomAD database, including 22,569 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 0.54 (22569 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0780

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.702 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: 0.543 AC: 82535 AN: 151902 Hom.: 22548 Cov.: 32

Gnomad AFR AF: 0.540

Gnomad AMI AF: 0.430

Gnomad AMR AF: 0.501

Gnomad ASJ AF: 0.505

Gnomad EAS AF: 0.477

Gnomad SAS AF: 0.722

Gnomad FIN AF: 0.542

Gnomad MID AF: 0.459

Gnomad NFE AF: 0.551

Gnomad OTH AF: 0.546

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

GnomAD4 genome AF: 0.543 AC: 82590 AN: 152020 Hom.: 22569 Cov.: 32 AF XY: 0.545 AC XY: 40539 AN XY: 74318

Gnomad4 AFR AF: 0.540

Gnomad4 AMR AF: 0.501

Gnomad4 ASJ AF: 0.505

Gnomad4 EAS AF: 0.477

Gnomad4 SAS AF: 0.722

Gnomad4 FIN AF: 0.542

Gnomad4 NFE AF: 0.551

Gnomad4 OTH AF: 0.540

Alfa AF: 0.546 Hom.: 2695

Bravo AF: 0.532

Asia WGS AF: 0.594 AC: 2070 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	6.1
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7773043; hg19: chr6-100921115; COSMIC: COSV60255547;