rs200549601
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The NM_016213.5(TRIP4):c.950G>A(p.Arg317Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000489 in 1,614,106 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. R317R) has been classified as Likely benign.
Frequency
Consequence
NM_016213.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIP4 | NM_016213.5 | c.950G>A | p.Arg317Gln | missense_variant | 7/13 | ENST00000261884.8 | |
TRIP4 | NM_001321924.2 | c.260G>A | p.Arg87Gln | missense_variant | 7/13 | ||
TRIP4 | NR_135855.2 | n.978G>A | non_coding_transcript_exon_variant | 7/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIP4 | ENST00000261884.8 | c.950G>A | p.Arg317Gln | missense_variant | 7/13 | 1 | NM_016213.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152108Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000676 AC: 17AN: 251446Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135888
GnomAD4 exome AF: 0.0000465 AC: 68AN: 1461880Hom.: 0 Cov.: 31 AF XY: 0.0000426 AC XY: 31AN XY: 727236
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152226Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74432
ClinVar
Submissions by phenotype
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 10, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at