rs1049229
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The ENST00000596758.5(TRIP10):c.1724A>G(p.Glu575Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.188 in 1,611,418 control chromosomes in the GnomAD database, including 29,491 homozygotes. In-silico tool predicts a benign outcome for this variant. 9/11 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
ENST00000596758.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIP10 | NM_001288962.2 | c.*57A>G | 3_prime_UTR_variant | 15/15 | ENST00000313244.14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIP10 | ENST00000313244.14 | c.*57A>G | 3_prime_UTR_variant | 15/15 | 1 | NM_001288962.2 | P3 | ||
ENST00000594056.1 | n.107+93T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.219 AC: 33261AN: 151622Hom.: 3784 Cov.: 32
GnomAD3 exomes AF: 0.203 AC: 50150AN: 247002Hom.: 5433 AF XY: 0.196 AC XY: 26323AN XY: 134344
GnomAD4 exome AF: 0.185 AC: 269860AN: 1459680Hom.: 25691 Cov.: 38 AF XY: 0.182 AC XY: 132471AN XY: 726154
GnomAD4 genome ? AF: 0.220 AC: 33320AN: 151738Hom.: 3800 Cov.: 32 AF XY: 0.221 AC XY: 16380AN XY: 74130
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 29, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at