6-30110488-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_007028.5(TRIM31):āc.704T>Cā(p.Leu235Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00291 in 1,614,140 control chromosomes in the GnomAD database, including 49 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_007028.5 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 |
---|---|---|---|---|---|---|---|---|
TRIM31 | NM_007028.5 | c.704T>C | p.Leu235Pro | missense_variant | 4/9 | ENST00000376734.4 | NP_008959.3 | |
TRIM31-AS1 | NR_126470.1 | n.274-1230A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM31 | ENST00000376734.4 | c.704T>C | p.Leu235Pro | missense_variant | 4/9 | 5 | NM_007028.5 | ENSP00000365924 | P1 | |
TRIM31-AS1 | ENST00000440874.1 | n.274-1230A>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
TRIM31 | ENST00000480808.1 | n.250T>C | non_coding_transcript_exon_variant | 2/3 | 3 | |||||
TRIM31 | ENST00000485864.5 | n.394T>C | non_coding_transcript_exon_variant | 3/6 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0113 AC: 1712AN: 152130Hom.: 25 Cov.: 32
GnomAD3 exomes AF: 0.00350 AC: 879AN: 251486Hom.: 6 AF XY: 0.00282 AC XY: 383AN XY: 135920
GnomAD4 exome AF: 0.00205 AC: 2990AN: 1461892Hom.: 24 Cov.: 31 AF XY: 0.00180 AC XY: 1307AN XY: 727248
GnomAD4 genome AF: 0.0112 AC: 1711AN: 152248Hom.: 25 Cov.: 32 AF XY: 0.0111 AC XY: 829AN XY: 74452
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | May 21, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at