rs387907165
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_002048.3(GAS1):āc.599C>Gā(p.Thr200Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000688 in 1,453,496 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T200A) has been classified as Uncertain significance.
Frequency
Consequence
NM_002048.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GAS1 | NM_002048.3 | c.599C>G | p.Thr200Arg | missense_variant | 1/1 | ENST00000298743.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAS1 | ENST00000298743.9 | c.599C>G | p.Thr200Arg | missense_variant | 1/1 | NM_002048.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000838 AC: 2AN: 238742Hom.: 0 AF XY: 0.00000764 AC XY: 1AN XY: 130910
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1453496Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 723444
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Holoprosencephaly 1 Uncertain:1
Uncertain significance, no assertion criteria provided | literature only | OMIM | Feb 01, 2012 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at