rs17608293

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_001378100.1(LDLRAD4):​c.-382-8704G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.281 in 151,960 control chromosomes in the GnomAD database, including 7,243 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 0.28 ( 7243 hom., cov: 32)

Consequence

LDLRAD4
NM_001378100.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.818
Variant links:
Genes affected
LDLRAD4 (HGNC:1224): (low density lipoprotein receptor class A domain containing 4) Enables R-SMAD binding activity. Involved in negative regulation of cell migration; negative regulation of epithelial to mesenchymal transition; and negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Located in early endosome membrane. [provided by Alliance of Genome Resources, Apr 2022]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.373 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
LDLRAD4NM_001378100.1 linkuse as main transcriptc.-382-8704G>A intron_variant ENST00000359446.11 NP_001365029.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
LDLRAD4ENST00000359446.11 linkuse as main transcriptc.-382-8704G>A intron_variant 1 NM_001378100.1 ENSP00000352420 P1O15165-1

Frequencies

GnomAD3 genomes
AF:
0.281
AC:
42627
AN:
151842
Hom.:
7235
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.0923
Gnomad AMI
AF:
0.436
Gnomad AMR
AF:
0.337
Gnomad ASJ
AF:
0.316
Gnomad EAS
AF:
0.119
Gnomad SAS
AF:
0.334
Gnomad FIN
AF:
0.348
Gnomad MID
AF:
0.272
Gnomad NFE
AF:
0.376
Gnomad OTH
AF:
0.297
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.281
AC:
42647
AN:
151960
Hom.:
7243
Cov.:
32
AF XY:
0.279
AC XY:
20722
AN XY:
74266
show subpopulations
Gnomad4 AFR
AF:
0.0921
Gnomad4 AMR
AF:
0.338
Gnomad4 ASJ
AF:
0.316
Gnomad4 EAS
AF:
0.119
Gnomad4 SAS
AF:
0.334
Gnomad4 FIN
AF:
0.348
Gnomad4 NFE
AF:
0.376
Gnomad4 OTH
AF:
0.301
Alfa
AF:
0.330
Hom.:
3098
Bravo
AF:
0.269
Asia WGS
AF:
0.246
AC:
857
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
9.2
DANN
Benign
0.46

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs17608293; hg19: chr18-13378636; API