4-120694991-A-G
Variant names:
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_018699.4(PRDM5):c.*120T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0116 in 1,207,890 control chromosomes in the GnomAD database, including 120 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Genomes: 𝑓 0.011 ( 18 hom., cov: 32)
Exomes 𝑓: 0.012 ( 102 hom. )
Consequence
PRDM5
NM_018699.4 3_prime_UTR
NM_018699.4 3_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.610
Genes affected
PRDM5 (HGNC:9349): (PR/SET domain 5) The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -13 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.7).
BP6
Variant 4-120694991-A-G is Benign according to our data. Variant chr4-120694991-A-G is described in ClinVar as [Conflicting_classifications_of_pathogenicity]. Clinvar id is 347429.We mark this variant Likely_benign, oryginal submissions are: {Uncertain_significance=1, Likely_benign=1}.
BS1
Variant frequency is greater than expected in population nfe. GnomAd4 allele frequency = 0.0114 (1735/152254) while in subpopulation NFE AF = 0.0153 (1038/67994). AF 95% confidence interval is 0.0145. There are 18 homozygotes in GnomAd4. There are 922 alleles in the male GnomAd4 subpopulation. Median coverage is 32. This position FAILED quality control check.
BS2
High Homozygotes in GnomAd4 at 18 AR gene
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0114 AC: 1735AN: 152136Hom.: 18 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
1735
AN:
152136
Hom.:
Cov.:
32
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.0116 AC: 12286AN: 1055636Hom.: 102 Cov.: 14 AF XY: 0.0114 AC XY: 6207AN XY: 542180 show subpopulations
GnomAD4 exome
AF:
AC:
12286
AN:
1055636
Hom.:
Cov.:
14
AF XY:
AC XY:
6207
AN XY:
542180
Gnomad4 AFR exome
AF:
AC:
52
AN:
25270
Gnomad4 AMR exome
AF:
AC:
260
AN:
42814
Gnomad4 ASJ exome
AF:
AC:
27
AN:
23370
Gnomad4 EAS exome
AF:
AC:
2
AN:
37414
Gnomad4 SAS exome
AF:
AC:
175
AN:
76502
Gnomad4 FIN exome
AF:
AC:
1106
AN:
45862
Gnomad4 NFE exome
AF:
AC:
10191
AN:
753808
Gnomad4 Remaining exome
AF:
AC:
463
AN:
47010
Heterozygous variant carriers
0
606
1213
1819
2426
3032
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Exome Het
Exome Hom
Variant carriers
0
314
628
942
1256
1570
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
GnomAD4 genome AF: 0.0114 AC: 1735AN: 152254Hom.: 18 Cov.: 32 AF XY: 0.0124 AC XY: 922AN XY: 74446 show subpopulations
GnomAD4 genome
AF:
AC:
1735
AN:
152254
Hom.:
Cov.:
32
AF XY:
AC XY:
922
AN XY:
74446
Gnomad4 AFR
AF:
AC:
0.00226114
AN:
0.00226114
Gnomad4 AMR
AF:
AC:
0.0141454
AN:
0.0141454
Gnomad4 ASJ
AF:
AC:
0.00172811
AN:
0.00172811
Gnomad4 EAS
AF:
AC:
0
AN:
0
Gnomad4 SAS
AF:
AC:
0.00227838
AN:
0.00227838
Gnomad4 FIN
AF:
AC:
0.0290292
AN:
0.0290292
Gnomad4 NFE
AF:
AC:
0.0152661
AN:
0.0152661
Gnomad4 OTH
AF:
AC:
0.00804163
AN:
0.00804163
Heterozygous variant carriers
0
82
164
247
329
411
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
20
40
60
80
100
<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:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
4
AN:
3478
ClinVar
Significance: Conflicting classifications of pathogenicity
Submissions summary: Uncertain:1Benign:1
Revision: criteria provided, conflicting classifications
LINK: link
Submissions by phenotype
Brittle cornea syndrome 1 Uncertain:1
Jun 14, 2016
Illumina Laboratory Services, Illumina
Significance:Uncertain significance
Review Status:criteria provided, single submitter
Collection Method:clinical testing
- -
not provided Benign:1
Jun 26, 2018
GeneDx
Significance:Likely benign
Review Status:criteria provided, single submitter
Collection Method:clinical testing
- -
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
Mutation Taster
=97/3
polymorphism
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