rs311390

Variant names:

• chr8-54189841-G-A
• rs311390

Your query was ambiguous. Multiple possible variants found:

• chr8-54189841-G-A
• chr8-54189841-G-C
• chr8-54189841-G-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 0.625 in 151,964 control chromosomes in the GnomAD database, including 29,979 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 (29979 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.335

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 (NFE) 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: 0.625 AC: 94949 AN: 151848 Hom.: 29972 Cov.: 32

Gnomad AFR AF: 0.630

Gnomad AMI AF: 0.727

Gnomad AMR AF: 0.517

Gnomad ASJ AF: 0.633

Gnomad EAS AF: 0.582

Gnomad SAS AF: 0.523

Gnomad FIN AF: 0.669

Gnomad MID AF: 0.642

Gnomad NFE AF: 0.648

Gnomad OTH AF: 0.635

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

GnomAD4 genome AF: 0.625 AC: 95008 AN: 151964 Hom.: 29979 Cov.: 32 AF XY: 0.623 AC XY: 46270 AN XY: 74288

Gnomad4 AFR AF: 0.630

Gnomad4 AMR AF: 0.516

Gnomad4 ASJ AF: 0.633

Gnomad4 EAS AF: 0.582

Gnomad4 SAS AF: 0.522

Gnomad4 FIN AF: 0.669

Gnomad4 NFE AF: 0.648

Gnomad4 OTH AF: 0.634

Alfa AF: 0.637 Hom.: 16323

Bravo AF: 0.617

Asia WGS AF: 0.525 AC: 1829 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	2.5
DANN	Benign	0.52

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs311390; hg19: chr8-55102401;