3-46603419-T-G

Variant summary

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

The ENST00000505797.1(ENSG00000283877):​n.*194+6783T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.239 in 151,962 control chromosomes in the GnomAD database, including 4,429 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 0.24 ( 4429 hom., cov: 32)

Consequence

ENSG00000283877
ENST00000505797.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.799
Variant links:
Genes affected
LRRC2 (HGNC:14676): (leucine rich repeat containing 2) This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011]

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=-0.97).
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.275 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
ENSG00000283877ENST00000505797.1 linkn.*194+6783T>G intron_variant Intron 3 of 3 3 ENSP00000490854.1 A0A1B0GWB0
LRRC2ENST00000682605.1 linkc.-20+3390A>C intron_variant Intron 1 of 8 ENSP00000507018.1 Q9BYS8

Frequencies

GnomAD3 genomes
AF:
0.240
AC:
36369
AN:
151842
Hom.:
4422
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.219
Gnomad AMI
AF:
0.275
Gnomad AMR
AF:
0.281
Gnomad ASJ
AF:
0.220
Gnomad EAS
AF:
0.256
Gnomad SAS
AF:
0.237
Gnomad FIN
AF:
0.160
Gnomad MID
AF:
0.299
Gnomad NFE
AF:
0.253
Gnomad OTH
AF:
0.279
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.239
AC:
36393
AN:
151962
Hom.:
4429
Cov.:
32
AF XY:
0.233
AC XY:
17346
AN XY:
74308
show subpopulations
Gnomad4 AFR
AF:
0.219
Gnomad4 AMR
AF:
0.282
Gnomad4 ASJ
AF:
0.220
Gnomad4 EAS
AF:
0.257
Gnomad4 SAS
AF:
0.237
Gnomad4 FIN
AF:
0.160
Gnomad4 NFE
AF:
0.253
Gnomad4 OTH
AF:
0.275
Alfa
AF:
0.259
Hom.:
10594
Bravo
AF:
0.252
Asia WGS
AF:
0.256
AC:
890
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.97
CADD
Benign
1.2
DANN
Benign
0.64

Splicing

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: rs6799581; hg19: chr3-46644909; API