rs951318

Variant names:

• chr6-1318476-A-G
• rs951318

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 0.0947 in 152,220 control chromosomes in the GnomAD database, including 907 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 0.095 (907 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.322

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.126 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: 0.0947 AC: 14407 AN: 152100 Hom.: 906 Cov.: 33

Gnomad AFR AF: 0.0286

Gnomad AMI AF: 0.0537

Gnomad AMR AF: 0.129

Gnomad ASJ AF: 0.0836

Gnomad EAS AF: 0.00173

Gnomad SAS AF: 0.0887

Gnomad FIN AF: 0.140

Gnomad MID AF: 0.0886

Gnomad NFE AF: 0.129

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.0947 AC: 14409 AN: 152220 Hom.: 907 Cov.: 33 AF XY: 0.0955 AC XY: 7109 AN XY: 74408

Gnomad4 AFR AF: 0.0285

Gnomad4 AMR AF: 0.129

Gnomad4 ASJ AF: 0.0836

Gnomad4 EAS AF: 0.00174

Gnomad4 SAS AF: 0.0888

Gnomad4 FIN AF: 0.140

Gnomad4 NFE AF: 0.129

Gnomad4 OTH AF: 0.106

Alfa AF: 0.116 Hom.: 399

Bravo AF: 0.0909

Asia WGS AF: 0.0360 AC: 124 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	6.5
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs951318; hg19: chr6-1318711;