rs17584191

Variant names:

• chr5-126197437-C-A
• rs17584191
• ENST00000450613.2:n.71+82294G>T

Your query was ambiguous. Multiple possible variants found:

• chr5-126197437-C-A
• chr5-126197437-C-T

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

The ENST00000450613.2(ENSG00000248752):​n.71+82294G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. 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 0.0 (0 hom., cov: 27)
  • Failed GnomAD Quality Control
• Consequence: ENSG00000248752 ENST00000450613.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.233
• Publications: 3 publications found

Genes affected

ENSG00000248752 (HGNC:):

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC124901056	XR_007058919.1	n.1620-99276G>T		intron_variant	Intron 1 of 8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000248752	ENST00000450613.2	n.71+82294G>T		intron_variant	Intron 1 of 2	3
ENSG00000248752	ENST00000651847.1	n.77-2208G>T		intron_variant	Intron 1 of 15
ENSG00000248752	ENST00000781629.1	n.175-2208G>T		intron_variant	Intron 1 of 4

Frequencies

GnomAD3 genomes AF: 0.00 AC: 0 AN: 141238 Hom.: 0 Cov.: 27

Gnomad AFR AF: 0.00

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

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

GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0 AN: 141348 Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0 AN XY: 68108

African (AFR) AF: 0.00 AC: 0 AN: 38142

American (AMR) AF: 0.00 AC: 0 AN: 14040

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3390

East Asian (EAS) AF: 0.00 AC: 0 AN: 4470

South Asian (SAS) AF: 0.00 AC: 0 AN: 4288

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 8238

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 258

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 65726

Other (OTH) AF: 0.00 AC: 0 AN: 1910

Alfa AF: 0.00 Hom.: 14329

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	5.7
DANN	Benign	0.42
PhyloP100		0.23

Splicing

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

Other links and lift over

dbSNP: rs17584191; hg19: chr5-125533130;