rs321329

Variant names:

• chr6-45755251-T-C
• rs321329

Your query was ambiguous. Multiple possible variants found:

• chr6-45755251-T-C
• chr6-45755251-T-G

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 0.634 in 152,006 control chromosomes in the GnomAD database, including 31,286 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 0.63 (31286 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.412

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.773 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: 0.634 AC: 96302 AN: 151888 Hom.: 31245 Cov.: 31

Gnomad AFR AF: 0.780

Gnomad AMI AF: 0.486

Gnomad AMR AF: 0.598

Gnomad ASJ AF: 0.619

Gnomad EAS AF: 0.469

Gnomad SAS AF: 0.733

Gnomad FIN AF: 0.619

Gnomad MID AF: 0.611

Gnomad NFE AF: 0.565

Gnomad OTH AF: 0.626

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

GnomAD4 genome AF: 0.634 AC: 96396 AN: 152006 Hom.: 31286 Cov.: 31 AF XY: 0.637 AC XY: 47308 AN XY: 74300

Gnomad4 AFR AF: 0.780

Gnomad4 AMR AF: 0.598

Gnomad4 ASJ AF: 0.619

Gnomad4 EAS AF: 0.468

Gnomad4 SAS AF: 0.733

Gnomad4 FIN AF: 0.619

Gnomad4 NFE AF: 0.565

Gnomad4 OTH AF: 0.623

Alfa AF: 0.577 Hom.: 52138

Bravo AF: 0.639

Asia WGS AF: 0.590 AC: 2052 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	2.6
DANN	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs321329; hg19: chr6-45722988;