11-101902691-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000334289.7(ANGPTL5):āc.470T>Cā(p.Ile157Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000633 in 1,611,490 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
ENST00000334289.7 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANGPTL5 | NM_178127.5 | c.470T>C | p.Ile157Thr | missense_variant | 6/9 | ENST00000334289.7 | NP_835228.2 | |
ANGPTL5 | XM_011542735.4 | c.346-2141T>C | intron_variant | XP_011541037.1 | ||||
ANGPTL5 | XM_017017466.3 | c.241+4412T>C | intron_variant | XP_016872955.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANGPTL5 | ENST00000334289.7 | c.470T>C | p.Ile157Thr | missense_variant | 6/9 | 1 | NM_178127.5 | ENSP00000335255 | P1 | |
ANGPTL5 | ENST00000534527.1 | c.346-2141T>C | intron_variant | 3 | ENSP00000433562 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251162Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135768
GnomAD4 exome AF: 0.0000637 AC: 93AN: 1459234Hom.: 0 Cov.: 30 AF XY: 0.0000592 AC XY: 43AN XY: 726058
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152256Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74436
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 01, 2022 | The c.470T>C (p.I157T) alteration is located in exon 6 (coding exon 5) of the ANGPTL5 gene. This alteration results from a T to C substitution at nucleotide position 470, causing the isoleucine (I) at amino acid position 157 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at