X-630935-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_000451.4(SHOX):c.38A>G(p.Asp13Gly) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D13N) has been classified as Uncertain significance.
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.38A>G | p.Asp13Gly | missense_variant | 1/5 | ENST00000686671.1 | |
SHOX | NM_006883.2 | c.38A>G | p.Asp13Gly | missense_variant | 2/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SHOX | ENST00000686671.1 | c.38A>G | p.Asp13Gly | missense_variant | 1/5 | NM_000451.4 | P1 | ||
SHOX | ENST00000381575.6 | c.38A>G | p.Asp13Gly | missense_variant | 1/5 | 1 | |||
SHOX | ENST00000381578.6 | c.38A>G | p.Asp13Gly | missense_variant | 2/6 | 5 | P1 | ||
SHOX | ENST00000334060.8 | c.38A>G | p.Asp13Gly | missense_variant | 2/6 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Langer mesomelic dysplasia syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Baylor Genetics | Jul 29, 2018 | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at