rs4635418

Variant names:

• chr18-76712787-A-G
• rs4635418
• ENST00000837373.1:n.65-1628A>G

Your query was ambiguous. Multiple possible variants found:

• chr18-76712787-A-G
• chr18-76712787-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000837373.1(ENSG00000308933):​n.65-1628A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.102 in 152,242 control chromosomes in the GnomAD database, including 893 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 0.10 (893 hom., cov: 33)
• Consequence: ENSG00000308933 ENST00000837373.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.351
• Publications: 0 publications found

Genes affected

ENSG00000308933 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.117 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000837373.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000308933	ENST00000837373.1		n.65-1628A>G		intron	N/A
	ENSG00000308933	ENST00000837374.1		n.45-1628A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.103 AC: 15595 AN: 152124 Hom.: 892 Cov.: 33

Gnomad AFR AF: 0.0914

Gnomad AMI AF: 0.151

Gnomad AMR AF: 0.102

Gnomad ASJ AF: 0.136

Gnomad EAS AF: 0.0326

Gnomad SAS AF: 0.127

Gnomad FIN AF: 0.106

Gnomad MID AF: 0.185

Gnomad NFE AF: 0.109

Gnomad OTH AF: 0.122

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

GnomAD4 genome AF: 0.102 AC: 15602 AN: 152242 Hom.: 893 Cov.: 33 AF XY: 0.103 AC XY: 7689 AN XY: 74432

African (AFR) AF: 0.0913 AC: 3794 AN: 41554

American (AMR) AF: 0.102 AC: 1554 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.136 AC: 472 AN: 3472

East Asian (EAS) AF: 0.0325 AC: 168 AN: 5174

South Asian (SAS) AF: 0.126 AC: 606 AN: 4828

European-Finnish (FIN) AF: 0.106 AC: 1120 AN: 10604

Middle Eastern (MID) AF: 0.199 AC: 58 AN: 292

European-Non Finnish (NFE) AF: 0.109 AC: 7432 AN: 68004

Other (OTH) AF: 0.124 AC: 261 AN: 2112

Alfa AF: 0.105 Hom.: 1986

Bravo AF: 0.0975

Asia WGS AF: 0.0800 AC: 276 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.44
DANN	Benign	0.36
PhyloP100		-0.35

Splicing

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

Other links and lift over

dbSNP: rs4635418; hg19: chr18-74424743;