6-30159194-G-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_006778.4(TRIM10):c.481C>G(p.Gln161Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000698 in 1,612,192 control chromosomes in the GnomAD database, including 8 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 0.0042 ( 3 hom., cov: 32)
Exomes 𝑓: 0.00034 ( 5 hom. )
Consequence
TRIM10
NM_006778.4 missense
NM_006778.4 missense
Scores
2
15
Clinical Significance
Conservation
PhyloP100: 2.87
Genes affected
TRIM10 (HGNC:10072): (tripartite motif containing 10) The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.004036635).
BP6
?
Variant 6-30159194-G-C is Benign according to our data. Variant chr6-30159194-G-C is described in ClinVar as [Benign]. Clinvar id is 710963.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
?
High Homozygotes in GnomAd at 3 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM10 | NM_006778.4 | c.481C>G | p.Gln161Glu | missense_variant | 2/7 | ENST00000449742.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM10 | ENST00000449742.7 | c.481C>G | p.Gln161Glu | missense_variant | 2/7 | 1 | NM_006778.4 | P1 | |
TRIM10 | ENST00000376704.3 | c.481C>G | p.Gln161Glu | missense_variant | 2/8 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00416 AC: 633AN: 152142Hom.: 3 Cov.: 32
GnomAD3 genomes
?
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GnomAD3 exomes AF: 0.00106 AC: 261AN: 246864Hom.: 3 AF XY: 0.000677 AC XY: 91AN XY: 134474
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GnomAD4 exome AF: 0.000338 AC: 493AN: 1459932Hom.: 5 Cov.: 30 AF XY: 0.000310 AC XY: 225AN XY: 726366
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GnomAD4 genome ? AF: 0.00416 AC: 633AN: 152260Hom.: 3 Cov.: 32 AF XY: 0.00384 AC XY: 286AN XY: 74464
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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 | Aug 16, 2018 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Uncertain
DEOGEN2
Benign
T;.
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Uncertain
D
MetaRNN
Benign
T;T
MetaSVM
Benign
T
MutationAssessor
Benign
L;L
MutationTaster
Benign
D;D
PrimateAI
Benign
T
PROVEAN
Benign
N;N
REVEL
Benign
Sift
Benign
T;T
Sift4G
Benign
T;T
Polyphen
P;P
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