rs3813905
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001393494.1(IL34):c.-1C>A variant causes a 5 prime UTR change. The variant allele was found at a frequency of 0.000000758 in 1,319,822 control chromosomes in the GnomAD database, with no homozygous occurrence. 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: 33)
Exomes 𝑓: 7.6e-7 ( 0 hom. )
Consequence
IL34
NM_001393494.1 5_prime_UTR
NM_001393494.1 5_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.60
Publications
0 publications found
Genes affected
IL34 (HGNC:28529): (interleukin 34) Interleukin-34 is a cytokine that promotes the differentiation and viability of monocytes and macrophages through the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin et al., 2008 [PubMed 18467591]).[supplied by OMIM, May 2008]
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.27).
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| IL34 | NM_001393494.1 | c.-1C>A | 5_prime_UTR_variant | Exon 1 of 6 | ENST00000288098.7 | NP_001380423.1 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| IL34 | ENST00000288098.7 | c.-1C>A | 5_prime_UTR_variant | Exon 1 of 6 | 1 | NM_001393494.1 | ENSP00000288098.2 | |||
| IL34 | ENST00000569641.1 | n.385C>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 3 | |||||
| IL34 | ENST00000574181.1 | n.75C>A | non_coding_transcript_exon_variant | Exon 1 of 3 | 4 | |||||
| IL34 | ENST00000429149.6 | c.-1C>A | 5_prime_UTR_variant | Exon 2 of 7 | 5 | ENSP00000397863.2 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
33
GnomAD4 exome AF: 7.58e-7 AC: 1AN: 1319822Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 649080 show subpopulations
GnomAD4 exome
AF:
AC:
1
AN:
1319822
Hom.:
Cov.:
34
AF XY:
AC XY:
0
AN XY:
649080
show subpopulations
African (AFR)
AF:
AC:
0
AN:
25810
American (AMR)
AF:
AC:
0
AN:
17880
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
22606
East Asian (EAS)
AF:
AC:
0
AN:
29166
South Asian (SAS)
AF:
AC:
0
AN:
66192
European-Finnish (FIN)
AF:
AC:
0
AN:
48230
Middle Eastern (MID)
AF:
AC:
0
AN:
5472
European-Non Finnish (NFE)
AF:
AC:
1
AN:
1049760
Other (OTH)
AF:
AC:
0
AN:
54706
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.525
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Exome Het
Variant carriers
0
2
4
6
8
10
<30
30-35
35-40
40-45
45-50
50-55
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>80
Age
GnomAD4 genome
GnomAD4 genome
Cov.:
33
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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