rs311408

Variant names:

• chr8-54201804-T-C
• rs311408

Your query was ambiguous. Multiple possible variants found:

• chr8-54201804-T-C
• chr8-54201804-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 0.696 in 151,794 control chromosomes in the GnomAD database, including 37,939 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 0.70 (37939 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.27

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.87 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: 0.696 AC: 105544 AN: 151674 Hom.: 37902 Cov.: 30

Gnomad AFR AF: 0.877

Gnomad AMI AF: 0.728

Gnomad AMR AF: 0.547

Gnomad ASJ AF: 0.659

Gnomad EAS AF: 0.583

Gnomad SAS AF: 0.521

Gnomad FIN AF: 0.666

Gnomad MID AF: 0.655

Gnomad NFE AF: 0.646

Gnomad OTH AF: 0.690

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

GnomAD4 genome AF: 0.696 AC: 105636 AN: 151794 Hom.: 37939 Cov.: 30 AF XY: 0.691 AC XY: 51178 AN XY: 74096

Gnomad4 AFR AF: 0.877

Gnomad4 AMR AF: 0.547

Gnomad4 ASJ AF: 0.659

Gnomad4 EAS AF: 0.583

Gnomad4 SAS AF: 0.520

Gnomad4 FIN AF: 0.666

Gnomad4 NFE AF: 0.646

Gnomad4 OTH AF: 0.689

Alfa AF: 0.672 Hom.: 4148

Bravo AF: 0.697

Asia WGS AF: 0.543 AC: 1890 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.6
DANN	Benign	0.55

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs311408; hg19: chr8-55114364; COSMIC: COSV69028591;