rs9271720

Variant names:

• chr6-32625730-G-A
• rs9271720

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 0.479 in 148,616 control chromosomes in the GnomAD database, including 17,037 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 0.48 (17037 hom., cov: 26)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.287
• Publications: 21 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.495 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: 0.479 AC: 71135 AN: 148500 Hom.: 17025 Cov.: 26

Gnomad AFR AF: 0.453

Gnomad AMI AF: 0.474

Gnomad AMR AF: 0.474

Gnomad ASJ AF: 0.573

Gnomad EAS AF: 0.351

Gnomad SAS AF: 0.445

Gnomad FIN AF: 0.494

Gnomad MID AF: 0.606

Gnomad NFE AF: 0.499

Gnomad OTH AF: 0.522

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

GnomAD4 genome AF: 0.479 AC: 71189 AN: 148616 Hom.: 17037 Cov.: 26 AF XY: 0.477 AC XY: 34567 AN XY: 72488

African (AFR) AF: 0.453 AC: 18265 AN: 40290

American (AMR) AF: 0.473 AC: 7047 AN: 14896

Ashkenazi Jewish (ASJ) AF: 0.573 AC: 1964 AN: 3430

East Asian (EAS) AF: 0.350 AC: 1774 AN: 5062

South Asian (SAS) AF: 0.447 AC: 2086 AN: 4668

European-Finnish (FIN) AF: 0.494 AC: 5034 AN: 10198

Middle Eastern (MID) AF: 0.611 AC: 176 AN: 288

European-Non Finnish (NFE) AF: 0.499 AC: 33358 AN: 66850

Other (OTH) AF: 0.520 AC: 1059 AN: 2036

Alfa AF: 0.487 Hom.: 5660

Asia WGS AF: 0.400 AC: 1394 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	4.8
DANN	Benign	0.27
PhyloP100		0.29

Splicing

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

Other links and lift over

dbSNP: rs9271720; hg19: chr6-32593507;