rs10818495
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001735.3(C5):c.2851+1331T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.475 in 149,442 control chromosomes in the GnomAD database, including 18,193 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 0.48 ( 18193 hom., cov: 26)
Consequence
C5
NM_001735.3 intron
NM_001735.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.690
Publications
6 publications found
Genes affected
C5 (HGNC:1331): (complement C5) This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
C5 Gene-Disease associations (from GenCC):
- complement component 5 deficiencyInheritance: AR Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae)
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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=-0.89).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.696 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.475 AC: 71000AN: 149344Hom.: 18187 Cov.: 26 show subpopulations
GnomAD3 genomes
AF:
AC:
71000
AN:
149344
Hom.:
Cov.:
26
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:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.475 AC: 71016AN: 149442Hom.: 18193 Cov.: 26 AF XY: 0.482 AC XY: 35053AN XY: 72712 show subpopulations
GnomAD4 genome
AF:
AC:
71016
AN:
149442
Hom.:
Cov.:
26
AF XY:
AC XY:
35053
AN XY:
72712
show subpopulations
African (AFR)
AF:
AC:
11043
AN:
40836
American (AMR)
AF:
AC:
8536
AN:
15030
Ashkenazi Jewish (ASJ)
AF:
AC:
1975
AN:
3460
East Asian (EAS)
AF:
AC:
3010
AN:
5096
South Asian (SAS)
AF:
AC:
3357
AN:
4690
European-Finnish (FIN)
AF:
AC:
5364
AN:
9532
Middle Eastern (MID)
AF:
AC:
163
AN:
290
European-Non Finnish (NFE)
AF:
AC:
35919
AN:
67528
Other (OTH)
AF:
AC:
1033
AN:
2072
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.509
Heterozygous variant carriers
0
1700
3400
5101
6801
8501
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
2058
AN:
3476
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
RBP_binding_hub_radar
RBP_regulation_power_radar
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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