14-92011029-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004239.4(TRIP11):āc.1271T>Gā(p.Ile424Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000805 in 1,613,912 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ā ). Synonymous variant affecting the same amino acid position (i.e. I424I) has been classified as Likely benign.
Frequency
Consequence
NM_004239.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIP11 | NM_004239.4 | c.1271T>G | p.Ile424Ser | missense_variant | 9/21 | ENST00000267622.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIP11 | ENST00000267622.8 | c.1271T>G | p.Ile424Ser | missense_variant | 9/21 | 1 | NM_004239.4 | P1 | |
TRIP11 | ENST00000554357.5 | c.460+726T>G | intron_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152076Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251302Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135818
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461836Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727222
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152076Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 74290
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 08, 2022 | The c.1271T>G (p.I424S) alteration is located in exon 9 (coding exon 9) of the TRIP11 gene. This alteration results from a T to G substitution at nucleotide position 1271, causing the isoleucine (I) at amino acid position 424 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Achondrogenesis, type IA Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Sep 02, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at