rs7713855

Positions:

• chr5-145544941-T-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The XM_047416828.1(PRELID2):​c.*11-29102A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.148 in 152,058 control chromosomes in the GnomAD database, including 1,778 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 0.15 (1778 hom., cov: 32)
• Consequence: PRELID2 XM_047416828.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.401

Genes affected

PRELID2 (HGNC:28306): (PRELI domain containing 2) Predicted to enable phosphatidic acid transfer activity. Predicted to be involved in phospholipid transport. Predicted to be active in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.52).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.177 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
PRELID2	XM_047416828.1	c.*11-29102A>G		intron_variant			XP_047272784.1
PRELID2	XM_047416830.1	c.*11-71626A>G		intron_variant			XP_047272786.1
PRELID2	XM_047416832.1	c.*43-29102A>G		intron_variant			XP_047272788.1
PRELID2	XR_007058586.1	n.636-71626A>G		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
PRELID2	ENST00000510259.5	n.71-71626A>G		intron_variant, non_coding_transcript_variant		3

Frequencies

GnomAD3 genomes AF: 0.148 AC: 22548 AN: 151940 Hom.: 1778 Cov.: 32

Gnomad AFR AF: 0.0953

Gnomad AMI AF: 0.107

Gnomad AMR AF: 0.139

Gnomad ASJ AF: 0.221

Gnomad EAS AF: 0.0696

Gnomad SAS AF: 0.153

Gnomad FIN AF: 0.184

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.180

Gnomad OTH AF: 0.144

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

GnomAD4 genome AF: 0.148 AC: 22557 AN: 152058 Hom.: 1778 Cov.: 32 AF XY: 0.146 AC XY: 10858 AN XY: 74338

Gnomad4 AFR AF: 0.0952

Gnomad4 AMR AF: 0.139

Gnomad4 ASJ AF: 0.221

Gnomad4 EAS AF: 0.0694

Gnomad4 SAS AF: 0.155

Gnomad4 FIN AF: 0.184

Gnomad4 NFE AF: 0.180

Gnomad4 OTH AF: 0.142

Alfa AF: 0.172 Hom.: 1181

Bravo AF: 0.143

Asia WGS AF: 0.113 AC: 395 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.52
CADD	Benign	15
DANN	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7713855; hg19: chr5-144924504;