rs10519663

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1

The XR_932029.3(LOC105370743):​n.354T>G 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 0.11 in 152,286 control chromosomes in the GnomAD database, including 984 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 0.11 ( 984 hom., cov: 33)

Consequence

LOC105370743
XR_932029.3 non_coding_transcript_exon

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.100

Publications

5 publications found
Variant links:
Genes affected
LCIIAR (HGNC:56346): (lung cancer immune cell infiltration associated lncRNA)

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Benign. The variant received -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.209 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000841149.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected
GeneTranscriptTagsHGVScHGVSpEffectExon RankProteinUniProt

There are no transcript annotations for this variant.

Ensembl Transcripts

Selected
GeneTranscriptTagsHGVScHGVSpEffectExon RankProteinUniProt
LCIIAR
ENST00000841149.1
n.326+9720A>C
intron
N/A

Frequencies

GnomAD3 genomes
AF:
0.110
AC:
16701
AN:
152168
Hom.:
978
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.0770
Gnomad AMI
AF:
0.0636
Gnomad AMR
AF:
0.159
Gnomad ASJ
AF:
0.111
Gnomad EAS
AF:
0.121
Gnomad SAS
AF:
0.220
Gnomad FIN
AF:
0.0927
Gnomad MID
AF:
0.193
Gnomad NFE
AF:
0.112
Gnomad OTH
AF:
0.130
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.110
AC:
16718
AN:
152286
Hom.:
984
Cov.:
33
AF XY:
0.111
AC XY:
8286
AN XY:
74468
show subpopulations
African (AFR)
AF:
0.0773
AC:
3214
AN:
41566
American (AMR)
AF:
0.159
AC:
2427
AN:
15288
Ashkenazi Jewish (ASJ)
AF:
0.111
AC:
384
AN:
3470
East Asian (EAS)
AF:
0.120
AC:
623
AN:
5180
South Asian (SAS)
AF:
0.220
AC:
1061
AN:
4824
European-Finnish (FIN)
AF:
0.0927
AC:
984
AN:
10612
Middle Eastern (MID)
AF:
0.190
AC:
56
AN:
294
European-Non Finnish (NFE)
AF:
0.112
AC:
7634
AN:
68028
Other (OTH)
AF:
0.131
AC:
277
AN:
2112
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.500
Heterozygous variant carriers
0
772
1545
2317
3090
3862
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
198
396
594
792
990
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
0.115
Hom.:
2123
Bravo
AF:
0.111
Asia WGS
AF:
0.187
AC:
649
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.90
CADD
Benign
0.16
DANN
Benign
0.40
PhyloP100
-0.10

Splicing

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

Publications

Other links and lift over

dbSNP: rs10519663; hg19: chr15-29979340; API