rs4107736

Positions:

• chr8-30018448-G-A

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 0.415 in 152,010 control chromosomes in the GnomAD database, including 16,147 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 0.42 (16147 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.496

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.557 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.416 AC: 63134 AN: 151892 Hom.: 16149 Cov.: 32

Gnomad AFR AF: 0.123

Gnomad AMI AF: 0.704

Gnomad AMR AF: 0.504

Gnomad ASJ AF: 0.521

Gnomad EAS AF: 0.196

Gnomad SAS AF: 0.382

Gnomad FIN AF: 0.554

Gnomad MID AF: 0.465

Gnomad NFE AF: 0.561

Gnomad OTH AF: 0.434

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

GnomAD4 genome AF: 0.415 AC: 63136 AN: 152010 Hom.: 16147 Cov.: 32 AF XY: 0.414 AC XY: 30739 AN XY: 74298

Gnomad4 AFR AF: 0.123

Gnomad4 AMR AF: 0.505

Gnomad4 ASJ AF: 0.521

Gnomad4 EAS AF: 0.195

Gnomad4 SAS AF: 0.381

Gnomad4 FIN AF: 0.554

Gnomad4 NFE AF: 0.561

Gnomad4 OTH AF: 0.431

Alfa AF: 0.537 Hom.: 45510

Bravo AF: 0.401

Asia WGS AF: 0.283 AC: 986 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	12
DANN	Benign	0.88

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4107736; hg19: chr8-29875964;