rs6571507

Variant names:

• chr14-32303121-A-G
• rs6571507

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.937 AC: 38945 AN: 41552

American (AMR) AF: 0.769 AC: 11752 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.623 AC: 2162 AN: 3472

East Asian (EAS) AF: 0.999 AC: 5183 AN: 5190

South Asian (SAS) AF: 0.866 AC: 4181 AN: 4828

European-Finnish (FIN) AF: 0.676 AC: 7155 AN: 10586

Middle Eastern (MID) AF: 0.653 AC: 192 AN: 294

European-Non Finnish (NFE) AF: 0.624 AC: 42430 AN: 67994

Other (OTH) AF: 0.722 AC: 1524 AN: 2112

Alfa AF: 0.692 Hom.: 4895

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
PhyloP100		-0.18

Splicing

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

Other links and lift over

dbSNP: rs6571507; hg19: chr14-32772327;