rs193920830
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BS2
The NM_000325.6(PITX2):c.580G>T(p.Ala194Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,460,570 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A194T) has been classified as Uncertain significance.
Frequency
Consequence
NM_000325.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PITX2 | NM_000325.6 | c.580G>T | p.Ala194Ser | missense_variant | 3/3 | ENST00000644743.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PITX2 | ENST00000644743.1 | c.580G>T | p.Ala194Ser | missense_variant | 3/3 | NM_000325.6 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1460570Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726326
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at