rs4305746

Variant names:

• chr6-132572626-G-A
• rs4305746

Your query was ambiguous. Multiple possible variants found:

• chr6-132572626-G-A
• chr6-132572626-G-T

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 0.544 in 151,966 control chromosomes in the GnomAD database, including 22,787 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 (22787 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.580

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.606 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: 0.544 AC: 82649 AN: 151846 Hom.: 22773 Cov.: 32

Gnomad AFR AF: 0.593

Gnomad AMI AF: 0.569

Gnomad AMR AF: 0.511

Gnomad ASJ AF: 0.469

Gnomad EAS AF: 0.429

Gnomad SAS AF: 0.625

Gnomad FIN AF: 0.563

Gnomad MID AF: 0.506

Gnomad NFE AF: 0.527

Gnomad OTH AF: 0.525

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

GnomAD4 genome AF: 0.544 AC: 82713 AN: 151966 Hom.: 22787 Cov.: 32 AF XY: 0.547 AC XY: 40661 AN XY: 74272

Gnomad4 AFR AF: 0.593

Gnomad4 AMR AF: 0.511

Gnomad4 ASJ AF: 0.469

Gnomad4 EAS AF: 0.430

Gnomad4 SAS AF: 0.625

Gnomad4 FIN AF: 0.563

Gnomad4 NFE AF: 0.527

Gnomad4 OTH AF: 0.524

Alfa AF: 0.513 Hom.: 8520

Bravo AF: 0.537

Asia WGS AF: 0.518 AC: 1802 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.9
DANN	Benign	0.85

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4305746; hg19: chr6-132893765;