rs4107736

Variant names:

• chr8-30018448-G-A
• rs4107736

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.123 AC: 5092 AN: 41468

American (AMR) AF: 0.505 AC: 7705 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.521 AC: 1806 AN: 3468

East Asian (EAS) AF: 0.195 AC: 1010 AN: 5172

South Asian (SAS) AF: 0.381 AC: 1838 AN: 4822

European-Finnish (FIN) AF: 0.554 AC: 5838 AN: 10530

Middle Eastern (MID) AF: 0.476 AC: 140 AN: 294

European-Non Finnish (NFE) AF: 0.561 AC: 38155 AN: 67962

Other (OTH) AF: 0.431 AC: 910 AN: 2112

Alfa AF: 0.512 Hom.: 67241

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
PhyloP100		-0.50

Splicing

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

Other links and lift over

dbSNP: rs4107736; hg19: chr8-29875964;