rs1832378

Variant names:

• chr6-145370328-A-G
• rs1832378

Your query was ambiguous. Multiple possible variants found:

• chr6-145370328-A-G
• chr6-145370328-A-T

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 0.438 in 152,062 control chromosomes in the GnomAD database, including 14,862 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 0.44 (14862 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.46
• Publications: 4 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 (EAS) allele frequency at 95% confidence interval = 0.643 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: 0.438 AC: 66540 AN: 151944 Hom.: 14870 Cov.: 32

Gnomad AFR AF: 0.366

Gnomad AMI AF: 0.462

Gnomad AMR AF: 0.522

Gnomad ASJ AF: 0.470

Gnomad EAS AF: 0.662

Gnomad SAS AF: 0.460

Gnomad FIN AF: 0.398

Gnomad MID AF: 0.468

Gnomad NFE AF: 0.447

Gnomad OTH AF: 0.470

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

GnomAD4 genome AF: 0.438 AC: 66548 AN: 152062 Hom.: 14862 Cov.: 32 AF XY: 0.438 AC XY: 32557 AN XY: 74308

African (AFR) AF: 0.366 AC: 15170 AN: 41476

American (AMR) AF: 0.523 AC: 7982 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.470 AC: 1630 AN: 3470

East Asian (EAS) AF: 0.661 AC: 3423 AN: 5178

South Asian (SAS) AF: 0.461 AC: 2221 AN: 4822

European-Finnish (FIN) AF: 0.398 AC: 4206 AN: 10556

Middle Eastern (MID) AF: 0.456 AC: 134 AN: 294

European-Non Finnish (NFE) AF: 0.447 AC: 30374 AN: 67972

Other (OTH) AF: 0.467 AC: 987 AN: 2112

Alfa AF: 0.447 Hom.: 65104

Bravo AF: 0.444

Asia WGS AF: 0.470 AC: 1633 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	0.052
DANN	Benign	0.51
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs1832378; hg19: chr6-145691464;