rs7744001

Variant names:

• chr6-32658309-G-A
• rs7744001

Your query was ambiguous. Multiple possible variants found:

• chr6-32658309-G-A
• chr6-32658309-G-C

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 0.35 in 151,542 control chromosomes in the GnomAD database, including 9,627 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 0.35 (9627 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.283

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.391 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: 0.350 AC: 52988 AN: 151424 Hom.: 9623 Cov.: 30

Gnomad AFR AF: 0.396

Gnomad AMI AF: 0.224

Gnomad AMR AF: 0.378

Gnomad ASJ AF: 0.424

Gnomad EAS AF: 0.378

Gnomad SAS AF: 0.407

Gnomad FIN AF: 0.260

Gnomad MID AF: 0.506

Gnomad NFE AF: 0.319

Gnomad OTH AF: 0.387

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

GnomAD4 genome AF: 0.350 AC: 53012 AN: 151542 Hom.: 9627 Cov.: 30 AF XY: 0.348 AC XY: 25797 AN XY: 74074

Gnomad4 AFR AF: 0.396

Gnomad4 AMR AF: 0.378

Gnomad4 ASJ AF: 0.424

Gnomad4 EAS AF: 0.378

Gnomad4 SAS AF: 0.405

Gnomad4 FIN AF: 0.260

Gnomad4 NFE AF: 0.319

Gnomad4 OTH AF: 0.386

Alfa AF: 0.327 Hom.: 6574

Bravo AF: 0.364

Asia WGS AF: 0.393 AC: 1364 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	4.3
DANN	Benign	0.45

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7744001; hg19: chr6-32626086;