6-32613805-C-G

Variant names:

• chr6-32613805-C-G
• rs9271300

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 0.536 in 151,776 control chromosomes in the GnomAD database, including 22,148 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 0.54 (22148 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.313
• Publications: 29 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 (AFR) allele frequency at 95% confidence interval = 0.562 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: 0.537 AC: 81365 AN: 151658 Hom.: 22138 Cov.: 32

Gnomad AFR AF: 0.568

Gnomad AMI AF: 0.645

Gnomad AMR AF: 0.483

Gnomad ASJ AF: 0.578

Gnomad EAS AF: 0.439

Gnomad SAS AF: 0.543

Gnomad FIN AF: 0.480

Gnomad MID AF: 0.675

Gnomad NFE AF: 0.539

Gnomad OTH AF: 0.583

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

GnomAD4 genome AF: 0.536 AC: 81410 AN: 151776 Hom.: 22148 Cov.: 32 AF XY: 0.531 AC XY: 39362 AN XY: 74178

African (AFR) AF: 0.568 AC: 23511 AN: 41366

American (AMR) AF: 0.483 AC: 7363 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.578 AC: 2004 AN: 3470

East Asian (EAS) AF: 0.439 AC: 2274 AN: 5178

South Asian (SAS) AF: 0.545 AC: 2622 AN: 4814

European-Finnish (FIN) AF: 0.480 AC: 5050 AN: 10530

Middle Eastern (MID) AF: 0.664 AC: 194 AN: 292

European-Non Finnish (NFE) AF: 0.539 AC: 36583 AN: 67848

Other (OTH) AF: 0.580 AC: 1221 AN: 2106

Alfa AF: 0.544 Hom.: 12633

Bravo AF: 0.538

Asia WGS AF: 0.432 AC: 1507 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	6.2
DANN	Benign	0.43
PhyloP100		-0.31

Splicing

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

Other links and lift over

dbSNP: rs9271300; hg19: chr6-32581582;