rs7451962

chr6-32614658-G-Achr6-32614658-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 0.435 in 151,020 control chromosomes in the GnomAD database, including 14,831 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 0.43 (14831 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.21

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.492 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: 0.435 AC: 65641 AN: 150902 Hom.: 14826 Cov.: 30

Gnomad AFR AF: 0.497

Gnomad AMI AF: 0.422

Gnomad AMR AF: 0.389

Gnomad ASJ AF: 0.446

Gnomad EAS AF: 0.421

Gnomad SAS AF: 0.505

Gnomad FIN AF: 0.277

Gnomad MID AF: 0.638

Gnomad NFE AF: 0.426

Gnomad OTH AF: 0.479

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

GnomAD4 genome AF: 0.435 AC: 65676 AN: 151020 Hom.: 14831 Cov.: 30 AF XY: 0.428 AC XY: 31568 AN XY: 73800

Gnomad4 AFR AF: 0.497

Gnomad4 AMR AF: 0.388

Gnomad4 ASJ AF: 0.446

Gnomad4 EAS AF: 0.420

Gnomad4 SAS AF: 0.505

Gnomad4 FIN AF: 0.277

Gnomad4 NFE AF: 0.426

Gnomad4 OTH AF: 0.477

Alfa AF: 0.430 Hom.: 1683

Bravo AF: 0.447

Asia WGS AF: 0.396 AC: 1380 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
Cadd	Benign	0.36
Dann	Benign	0.48

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7451962; hg19: chr6-32582435;