chr10-102644659-C-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_ModerateBP6_Very_StrongBS2
The NM_030912.3(TRIM8):āc.42C>Gā(p.Ile14Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000728 in 1,613,388 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_030912.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM8 | NM_030912.3 | c.42C>G | p.Ile14Met | missense_variant | 1/6 | ENST00000643721.2 | NP_112174.2 | |
TRIM8 | NM_001345950.1 | c.42C>G | p.Ile14Met | missense_variant | 1/5 | NP_001332879.1 | ||
TRIM8 | NR_144321.1 | n.165C>G | non_coding_transcript_exon_variant | 1/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM8 | ENST00000643721.2 | c.42C>G | p.Ile14Met | missense_variant | 1/6 | NM_030912.3 | ENSP00000496301 | P1 | ||
TRIM8 | ENST00000302424.12 | c.42C>G | p.Ile14Met | missense_variant | 1/5 | 1 | ENSP00000302120 | |||
TRIM8 | ENST00000710327.1 | c.42C>G | p.Ile14Met | missense_variant | 1/6 | ENSP00000518207 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000598 AC: 91AN: 152168Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000579 AC: 144AN: 248814Hom.: 0 AF XY: 0.000644 AC XY: 87AN XY: 135196
GnomAD4 exome AF: 0.000741 AC: 1083AN: 1461102Hom.: 3 Cov.: 32 AF XY: 0.000729 AC XY: 530AN XY: 726864
GnomAD4 genome AF: 0.000598 AC: 91AN: 152286Hom.: 0 Cov.: 33 AF XY: 0.000672 AC XY: 50AN XY: 74452
ClinVar
Submissions by phenotype
Inborn genetic diseases Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 10, 2021 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
TRIM8-related disorder Benign:1
Likely benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Jul 07, 2022 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 27, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at