ENST00000819995.1:n.21G>A

Variant names:

• chr10-103241568-G-A
• rs7913461
• ENST00000819995.1:n.21G>A

Variant summary

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

The ENST00000819995.1(ENSG00000306663):​n.21G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.623 in 151,984 control chromosomes in the GnomAD database, including 30,461 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 0.62 (30461 hom., cov: 31)
• Consequence: ENSG00000306663 ENST00000819995.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0330
• Publications: 18 publications found

Genes affected

ENSG00000306663 (HGNC:):

NT5C2 (HGNC:8022): (5'-nucleotidase, cytosolic II) This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]

NT5C2 Gene-Disease associations (from GenCC):

• hereditary spastic paraplegia 45

  Inheritance: AR Classification: STRONG, MODERATE, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), Laboratory for Molecular Medicine, Orphanet

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 (AFR) allele frequency at 95% confidence interval = 0.785 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
ENSG00000306663	ENST00000819995.1	n.21G>A		non_coding_transcript_exon_variant	Exon 1 of 3
NT5C2	ENST00000674696.1	c.-25+34648C>T		intron_variant	Intron 1 of 17			ENSP00000502679.1
NT5C2	ENST00000675326.1	c.-169+35586C>T		intron_variant	Intron 1 of 18			ENSP00000502205.1

Frequencies

GnomAD3 genomes AF: 0.623 AC: 94606 AN: 151866 Hom.: 30415 Cov.: 31

Gnomad AFR AF: 0.793

Gnomad AMI AF: 0.683

Gnomad AMR AF: 0.577

Gnomad ASJ AF: 0.568

Gnomad EAS AF: 0.590

Gnomad SAS AF: 0.437

Gnomad FIN AF: 0.526

Gnomad MID AF: 0.494

Gnomad NFE AF: 0.564

Gnomad OTH AF: 0.604

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

GnomAD4 genome AF: 0.623 AC: 94701 AN: 151984 Hom.: 30461 Cov.: 31 AF XY: 0.617 AC XY: 45825 AN XY: 74268

African (AFR) AF: 0.793 AC: 32885 AN: 41486

American (AMR) AF: 0.577 AC: 8804 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.568 AC: 1969 AN: 3466

East Asian (EAS) AF: 0.589 AC: 3033 AN: 5148

South Asian (SAS) AF: 0.437 AC: 2104 AN: 4816

European-Finnish (FIN) AF: 0.526 AC: 5556 AN: 10572

Middle Eastern (MID) AF: 0.490 AC: 144 AN: 294

European-Non Finnish (NFE) AF: 0.564 AC: 38307 AN: 67924

Other (OTH) AF: 0.605 AC: 1280 AN: 2114

Alfa AF: 0.610 Hom.: 5684

Bravo AF: 0.639

Asia WGS AF: 0.531 AC: 1852 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	0.62
DANN	Benign	0.32
PhyloP100		-0.033

Splicing

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

Other links and lift over

dbSNP: rs7913461; hg19: chr10-105001325;