rs713878

Variant names:

• chr22-25366043-T-A
• rs713878
• XR_007068030.1:n.9988A>T

Your query was ambiguous. Multiple possible variants found:

• chr22-25366043-T-A
• chr22-25366043-T-C
• chr22-25366043-T-G

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The XR_007068030.1(LRP5L):​n.9988A>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 34)
• Consequence: LRP5L XR_007068030.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.368

Genes affected

LRP5L (HGNC:25323): (LDL receptor related protein 5 like (pseudogene)) Predicted to enable coreceptor activity. Predicted to be involved in several processes, including animal organ development; cholesterol homeostasis; and osteoblast development. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000290796 (HGNC:):

ACMG classification

Verdict is Likely_benign. Variant got -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LRP5L	XR_007068030.1	n.9988A>T		non_coding_transcript_exon_variant	Exon 4 of 7
LRP5L	XR_007068031.1	n.10240A>T		non_coding_transcript_exon_variant	Exon 3 of 6
LRP5L	XR_005228024.2	n.602-3652A>T		intron_variant	Intron 3 of 6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000290796	ENST00000444995.7	n.571-5820A>T		intron_variant	Intron 3 of 6	5
ENSG00000290796	ENST00000468442.1	n.348-4724A>T		intron_variant	Intron 2 of 3	3
ENSG00000290796	ENST00000650168.1	n.703-5820A>T		intron_variant	Intron 4 of 7
LRP5L	ENST00000650500.2	n.600-5820A>T		intron_variant	Intron 4 of 7

Frequencies

GnomAD3 genomes Cov.: 34

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

GnomAD4 genome Cov.: 34

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	2.4
DANN	Benign	0.92
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs713878; hg19: chr22-25762010;