20-37184123-C-A
Variant names:
Variant summary
Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_002951.5(RPN2):c.14-57C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.341 in 1,594,134 control chromosomes in the GnomAD database, including 98,121 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.38 ( 12010 hom., cov: 32)
Exomes 𝑓: 0.34 ( 86111 hom. )
Consequence
RPN2
NM_002951.5 intron
NM_002951.5 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.504
Genes affected
RPN2 (HGNC:10382): (ribophorin II) This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
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ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BP6
Variant 20-37184123-C-A is Benign according to our data. Variant chr20-37184123-C-A is described in ClinVar as [Benign]. Clinvar id is 1275370.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.532 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.379 AC: 57626AN: 151862Hom.: 11995 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
57626
AN:
151862
Hom.:
Cov.:
32
Gnomad AFR
AF:
Gnomad AMI
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Gnomad MID
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Gnomad NFE
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Gnomad OTH
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GnomAD2 exomes AF: 0.303 AC: 75859AN: 250236 AF XY: 0.305 show subpopulations
GnomAD2 exomes
AF:
AC:
75859
AN:
250236
AF XY:
Gnomad AFR exome
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GnomAD4 exome AF: 0.336 AC: 485170AN: 1442154Hom.: 86111 Cov.: 27 AF XY: 0.334 AC XY: 240245AN XY: 718718 show subpopulations
GnomAD4 exome
AF:
AC:
485170
AN:
1442154
Hom.:
Cov.:
27
AF XY:
AC XY:
240245
AN XY:
718718
Gnomad4 AFR exome
AF:
AC:
17825
AN:
33042
Gnomad4 AMR exome
AF:
AC:
8835
AN:
44688
Gnomad4 ASJ exome
AF:
AC:
9605
AN:
25990
Gnomad4 EAS exome
AF:
AC:
299
AN:
39570
Gnomad4 SAS exome
AF:
AC:
22578
AN:
85688
Gnomad4 FIN exome
AF:
AC:
17008
AN:
53350
Gnomad4 NFE exome
AF:
AC:
386409
AN:
1094422
Gnomad4 Remaining exome
AF:
AC:
20260
AN:
59676
Heterozygous variant carriers
0
15180
30359
45539
60718
75898
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Exome Het
Exome Hom
Variant carriers
0
12034
24068
36102
48136
60170
<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: 0.379 AC: 57667AN: 151980Hom.: 12010 Cov.: 32 AF XY: 0.372 AC XY: 27619AN XY: 74308 show subpopulations
GnomAD4 genome
AF:
AC:
57667
AN:
151980
Hom.:
Cov.:
32
AF XY:
AC XY:
27619
AN XY:
74308
Gnomad4 AFR
AF:
AC:
0.537464
AN:
0.537464
Gnomad4 AMR
AF:
AC:
0.269719
AN:
0.269719
Gnomad4 ASJ
AF:
AC:
0.369452
AN:
0.369452
Gnomad4 EAS
AF:
AC:
0.00984176
AN:
0.00984176
Gnomad4 SAS
AF:
AC:
0.251451
AN:
0.251451
Gnomad4 FIN
AF:
AC:
0.313519
AN:
0.313519
Gnomad4 NFE
AF:
AC:
0.356584
AN:
0.356584
Gnomad4 OTH
AF:
AC:
0.383412
AN:
0.383412
Heterozygous variant carriers
0
1749
3497
5246
6994
8743
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
544
1088
1632
2176
2720
<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:
579
AN:
3478
ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2
Sep 05, 2018
GeneDx
Significance:Benign
Review Status:criteria provided, single submitter
Collection Method:clinical testing
- -
-
Breakthrough Genomics, Breakthrough Genomics
Significance:Benign
Review Status:criteria provided, single submitter
Collection Method:not provided
- -
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
Mutation Taster
=100/0
polymorphism (auto)
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