rs9275698

Variant names:

• chr6-32720196-A-G
• rs9275698

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 0.369 in 149,858 control chromosomes in the GnomAD database, including 10,488 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 0.37 (10488 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.21

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.43 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: 0.369 AC: 55283 AN: 149738 Hom.: 10476 Cov.: 31

Gnomad AFR AF: 0.435

Gnomad AMI AF: 0.147

Gnomad AMR AF: 0.356

Gnomad ASJ AF: 0.425

Gnomad EAS AF: 0.275

Gnomad SAS AF: 0.423

Gnomad FIN AF: 0.242

Gnomad MID AF: 0.376

Gnomad NFE AF: 0.353

Gnomad OTH AF: 0.424

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

GnomAD4 genome AF: 0.369 AC: 55330 AN: 149858 Hom.: 10488 Cov.: 31 AF XY: 0.365 AC XY: 26642 AN XY: 73022

Gnomad4 AFR AF: 0.435 AC: 0.435418 AN: 0.435418

Gnomad4 AMR AF: 0.355 AC: 0.355274 AN: 0.355274

Gnomad4 ASJ AF: 0.425 AC: 0.424681 AN: 0.424681

Gnomad4 EAS AF: 0.276 AC: 0.276006 AN: 0.276006

Gnomad4 SAS AF: 0.424 AC: 0.424163 AN: 0.424163

Gnomad4 FIN AF: 0.242 AC: 0.241942 AN: 0.241942

Gnomad4 NFE AF: 0.353 AC: 0.352678 AN: 0.352678

Gnomad4 OTH AF: 0.418 AC: 0.418112 AN: 0.418112

Alfa AF: 0.352 Hom.: 38413

Bravo AF: 0.370

Asia WGS AF: 0.324 AC: 1127 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.71
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9275698; hg19: chr6-32687973;