chr14-24576180-C-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001911.3(CTSG):c.44G>C(p.Gly15Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00267 in 1,610,484 control chromosomes in the GnomAD database, including 96 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.015 ( 57 hom., cov: 32)
Exomes 𝑓: 0.0014 ( 39 hom. )
Consequence
CTSG
NM_001911.3 missense
NM_001911.3 missense
Scores
2
16
Clinical Significance
Conservation
PhyloP100: 0.688
Genes affected
CTSG (HGNC:2532): (cathepsin G) The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. In addition, the encoded protein is antimicrobial, with bacteriocidal activity against S. aureus and N. gonorrhoeae. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Sep 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.0033926964).
BP6
?
Variant 14-24576180-C-G is Benign according to our data. Variant chr14-24576180-C-G is described in ClinVar as [Benign]. Clinvar id is 776828.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0145 (2214/152230) while in subpopulation AFR AF= 0.0506 (2103/41532). AF 95% confidence interval is 0.0488. There are 57 homozygotes in gnomad4. There are 1048 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 57 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CTSG | NM_001911.3 | c.44G>C | p.Gly15Ala | missense_variant | 1/5 | ENST00000216336.3 | |
CTSG | XM_011536499.2 | c.44G>C | p.Gly15Ala | missense_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CTSG | ENST00000216336.3 | c.44G>C | p.Gly15Ala | missense_variant | 1/5 | 1 | NM_001911.3 | P1 | |
CTSG | ENST00000552252.1 | n.71G>C | non_coding_transcript_exon_variant | 1/4 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0145 AC: 2211AN: 152112Hom.: 57 Cov.: 32
GnomAD3 genomes
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GnomAD3 exomes AF: 0.00373 AC: 910AN: 244130Hom.: 17 AF XY: 0.00277 AC XY: 364AN XY: 131590
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GnomAD4 exome AF: 0.00144 AC: 2094AN: 1458254Hom.: 39 Cov.: 30 AF XY: 0.00129 AC XY: 934AN XY: 724842
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GnomAD4 genome ? AF: 0.0145 AC: 2214AN: 152230Hom.: 57 Cov.: 32 AF XY: 0.0141 AC XY: 1048AN XY: 74412
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ESP6500AA
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553
Asia WGS
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3478
ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 31, 2018 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
DEOGEN2
Benign
T
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
LIST_S2
Benign
T
MetaRNN
Benign
T
MetaSVM
Benign
T
MutationAssessor
Benign
L
MutationTaster
Benign
N
PrimateAI
Benign
T
PROVEAN
Uncertain
D
REVEL
Benign
Sift
Uncertain
D
Sift4G
Benign
T
Polyphen
B
Vest4
MVP
MPC
ClinPred
T
GERP RS
Varity_R
gMVP
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at