1-178851191-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004673.4(ANGPTL1):c.1414G>A(p.Glu472Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000991 in 1,613,846 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004673.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANGPTL1 | ENST00000234816.7 | c.1414G>A | p.Glu472Lys | missense_variant | Exon 6 of 6 | 1 | NM_004673.4 | ENSP00000234816.2 | ||
RALGPS2 | ENST00000367635.8 | c.607+17641C>T | intron_variant | Intron 8 of 19 | 1 | NM_152663.5 | ENSP00000356607.3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251358Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135834
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461736Hom.: 0 Cov.: 30 AF XY: 0.0000124 AC XY: 9AN XY: 727166
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152110Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74302
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1414G>A (p.E472K) alteration is located in exon 6 (coding exon 4) of the ANGPTL1 gene. This alteration results from a G to A substitution at nucleotide position 1414, causing the glutamic acid (E) at amino acid position 472 to be replaced by a lysine (K). 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