3-134360259-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016201.4(AMOTL2):c.1730G>A(p.Arg577His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,614,100 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016201.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AMOTL2 | NM_016201.4 | c.1730G>A | p.Arg577His | missense_variant | Exon 7 of 10 | ENST00000249883.10 | NP_057285.3 | |
AMOTL2 | NM_001278683.1 | c.1904G>A | p.Arg635His | missense_variant | Exon 7 of 10 | NP_001265612.1 | ||
AMOTL2 | NM_001363943.2 | c.1730G>A | p.Arg577His | missense_variant | Exon 7 of 10 | NP_001350872.1 | ||
AMOTL2 | NM_001278685.2 | c.1724G>A | p.Arg575His | missense_variant | Exon 7 of 10 | NP_001265614.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000637 AC: 16AN: 251254Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135828
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461866Hom.: 0 Cov.: 32 AF XY: 0.0000261 AC XY: 19AN XY: 727234
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152234Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1730G>A (p.R577H) alteration is located in exon 7 (coding exon 6) of the AMOTL2 gene. This alteration results from a G to A substitution at nucleotide position 1730, causing the arginine (R) at amino acid position 577 to be replaced by a histidine (H). 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