rs4631108

Variant names:

• chr4-110852711-A-C
• rs4631108

Your query was ambiguous. Multiple possible variants found:

• chr4-110852711-A-C
• chr4-110852711-A-G
• chr4-110852711-A-T

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 0.613 in 151,906 control chromosomes in the GnomAD database, including 28,678 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 0.61 (28678 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.810
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.736 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: 0.613 AC: 93104 AN: 151788 Hom.: 28670 Cov.: 31

Gnomad AFR AF: 0.598

Gnomad AMI AF: 0.389

Gnomad AMR AF: 0.610

Gnomad ASJ AF: 0.565

Gnomad EAS AF: 0.757

Gnomad SAS AF: 0.704

Gnomad FIN AF: 0.622

Gnomad MID AF: 0.541

Gnomad NFE AF: 0.611

Gnomad OTH AF: 0.608

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

GnomAD4 genome AF: 0.613 AC: 93156 AN: 151906 Hom.: 28678 Cov.: 31 AF XY: 0.613 AC XY: 45549 AN XY: 74258

African (AFR) AF: 0.598 AC: 24748 AN: 41418

American (AMR) AF: 0.610 AC: 9308 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.565 AC: 1959 AN: 3470

East Asian (EAS) AF: 0.756 AC: 3899 AN: 5158

South Asian (SAS) AF: 0.704 AC: 3390 AN: 4812

European-Finnish (FIN) AF: 0.622 AC: 6562 AN: 10550

Middle Eastern (MID) AF: 0.551 AC: 161 AN: 292

European-Non Finnish (NFE) AF: 0.611 AC: 41496 AN: 67940

Other (OTH) AF: 0.607 AC: 1280 AN: 2108

Alfa AF: 0.616 Hom.: 109335

Bravo AF: 0.613

Asia WGS AF: 0.684 AC: 2378 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.15
DANN	Benign	0.55
PhyloP100		-0.81

Splicing

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

Other links and lift over

dbSNP: rs4631108; hg19: chr4-111773867;