rs9378212

Variant names:

• chr6-32477914-C-G
• rs9378212

Your query was ambiguous. Multiple possible variants found:

• chr6-32477914-C-G
• chr6-32477914-C-T

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 0.104 in 128,482 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 0.10 (0 hom., cov: 36)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.06

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.146 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: 0.104 AC: 13320 AN: 128368 Hom.: 0 Cov.: 36

Gnomad AFR AF: 0.149

Gnomad AMI AF: 0.0405

Gnomad AMR AF: 0.0909

Gnomad ASJ AF: 0.0929

Gnomad EAS AF: 0.0727

Gnomad SAS AF: 0.103

Gnomad FIN AF: 0.0659

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.0910

Gnomad OTH AF: 0.110

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

GnomAD4 genome AF: 0.104 AC: 13334 AN: 128482 Hom.: 0 Cov.: 36 AF XY: 0.104 AC XY: 6539 AN XY: 62998

Gnomad4 AFR AF: 0.149

Gnomad4 AMR AF: 0.0909

Gnomad4 ASJ AF: 0.0929

Gnomad4 EAS AF: 0.0725

Gnomad4 SAS AF: 0.104

Gnomad4 FIN AF: 0.0659

Gnomad4 NFE AF: 0.0910

Gnomad4 OTH AF: 0.109

Alfa AF: 0.0134 Hom.: 3574

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.0
DANN	Benign	0.31

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9378212; hg19: chr6-32445691;