rs17436811

Variant names:

• chr18-10090774-T-C
• rs17436811
• ENST00000685786.1:n.388+4549T>C

Variant summary

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

The ENST00000685786.1(ENSG00000265554):​n.388+4549T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0386 in 152,314 control chromosomes in the GnomAD database, including 137 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 0.039 (137 hom., cov: 33)
• Consequence: ENSG00000265554 ENST00000685786.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.141
• Publications: 3 publications found

Genes affected

ENSG00000265554 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0686 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000685786.1. 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
	ENSG00000265554	ENST00000685786.1		n.388+4549T>C		intron	N/A
	ENSG00000265554	ENST00000751533.1		n.93+12469T>C		intron	N/A
	ENSG00000265554	ENST00000751534.1		n.82+12469T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.0386 AC: 5873 AN: 152196 Hom.: 136 Cov.: 33

Gnomad AFR AF: 0.0147

Gnomad AMI AF: 0.00877

Gnomad AMR AF: 0.0310

Gnomad ASJ AF: 0.0544

Gnomad EAS AF: 0.00576

Gnomad SAS AF: 0.0739

Gnomad FIN AF: 0.0531

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0525

Gnomad OTH AF: 0.0326

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

GnomAD4 genome AF: 0.0386 AC: 5878 AN: 152314 Hom.: 137 Cov.: 33 AF XY: 0.0380 AC XY: 2831 AN XY: 74474

African (AFR) AF: 0.0147 AC: 610 AN: 41570

American (AMR) AF: 0.0309 AC: 473 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.0544 AC: 189 AN: 3472

East Asian (EAS) AF: 0.00578 AC: 30 AN: 5194

South Asian (SAS) AF: 0.0750 AC: 362 AN: 4826

European-Finnish (FIN) AF: 0.0531 AC: 564 AN: 10612

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 294

European-Non Finnish (NFE) AF: 0.0525 AC: 3574 AN: 68022

Other (OTH) AF: 0.0322 AC: 68 AN: 2110

Alfa AF: 0.0438 Hom.: 199

Bravo AF: 0.0331

Asia WGS AF: 0.0370 AC: 127 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	1.9
DANN	Benign	0.71
PhyloP100		-0.14

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs17436811;

hg19: chr18-10090771;