rs750375727
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_000451.4(SHOX):c.698C>A(p.Ala233Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000073 in 1,370,048 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. 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. A233V) has been classified as Likely benign.
Frequency
Consequence
NM_000451.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SHOX | NM_000451.4 | c.698C>A | p.Ala233Glu | missense_variant | 5/5 | ENST00000686671.1 | |
SHOX | NM_006883.2 | c.633+3368C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SHOX | ENST00000686671.1 | c.698C>A | p.Ala233Glu | missense_variant | 5/5 | NM_000451.4 | P1 | ||
SHOX | ENST00000381575.6 | c.633+3368C>A | intron_variant | 1 | |||||
SHOX | ENST00000381578.6 | c.698C>A | p.Ala233Glu | missense_variant | 6/6 | 5 | P1 | ||
SHOX | ENST00000334060.8 | c.633+3368C>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000827 AC: 1AN: 120878Hom.: 0 AF XY: 0.0000151 AC XY: 1AN XY: 66436
GnomAD4 exome AF: 7.30e-7 AC: 1AN: 1370048Hom.: 0 Cov.: 32 AF XY: 0.00000148 AC XY: 1AN XY: 676290
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at