rs28362332

Variant names:

• chr6-31194377-G-A
• rs28362332

Your query was ambiguous. Multiple possible variants found:

• chr6-31194377-G-A
• chr6-31194377-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 0.122 in 152,210 control chromosomes in the GnomAD database, including 1,236 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 0.12 (1236 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.39

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.15 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: 0.122 AC: 18609 AN: 152092 Hom.: 1234 Cov.: 33

Gnomad AFR AF: 0.104

Gnomad AMI AF: 0.187

Gnomad AMR AF: 0.155

Gnomad ASJ AF: 0.170

Gnomad EAS AF: 0.108

Gnomad SAS AF: 0.140

Gnomad FIN AF: 0.185

Gnomad MID AF: 0.206

Gnomad NFE AF: 0.111

Gnomad OTH AF: 0.173

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

GnomAD4 genome AF: 0.122 AC: 18632 AN: 152210 Hom.: 1236 Cov.: 33 AF XY: 0.127 AC XY: 9416 AN XY: 74420

Gnomad4 AFR AF: 0.104

Gnomad4 AMR AF: 0.155

Gnomad4 ASJ AF: 0.170

Gnomad4 EAS AF: 0.108

Gnomad4 SAS AF: 0.141

Gnomad4 FIN AF: 0.185

Gnomad4 NFE AF: 0.111

Gnomad4 OTH AF: 0.173

Alfa AF: 0.121 Hom.: 702

Bravo AF: 0.122

Asia WGS AF: 0.134 AC: 465 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	11
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs28362332; hg19: chr6-31162154;