rs6571507

chr14-32303121-A-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 0.75 in 152,222 control chromosomes in the GnomAD database, including 44,344 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 0.75 (44344 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.178

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.976 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: 0.749 AC: 113962 AN: 152104 Hom.: 44274 Cov.: 33

Gnomad AFR AF: 0.937

Gnomad AMI AF: 0.626

Gnomad AMR AF: 0.769

Gnomad ASJ AF: 0.623

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.866

Gnomad FIN AF: 0.676

Gnomad MID AF: 0.652

Gnomad NFE AF: 0.624

Gnomad OTH AF: 0.719

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

GnomAD4 genome AF: 0.750 AC: 114094 AN: 152222 Hom.: 44344 Cov.: 33 AF XY: 0.757 AC XY: 56341 AN XY: 74418

Gnomad4 AFR AF: 0.937

Gnomad4 AMR AF: 0.769

Gnomad4 ASJ AF: 0.623

Gnomad4 EAS AF: 0.999

Gnomad4 SAS AF: 0.866

Gnomad4 FIN AF: 0.676

Gnomad4 NFE AF: 0.624

Gnomad4 OTH AF: 0.722

Alfa AF: 0.683 Hom.: 4575

Bravo AF: 0.762

Asia WGS AF: 0.932 AC: 3239 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	5.6
Dann	Benign	0.80

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6571507; hg19: chr14-32772327;