rs142306835
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_000451.4(SHOX):c.63C>G(p.Gly21=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,140 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G21G) has been classified as Likely benign.
Frequency
Consequence
NM_000451.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SHOX | NM_000451.4 | c.63C>G | p.Gly21= | synonymous_variant | 1/5 | ENST00000686671.1 | |
SHOX | NM_006883.2 | c.63C>G | p.Gly21= | synonymous_variant | 2/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SHOX | ENST00000686671.1 | c.63C>G | p.Gly21= | synonymous_variant | 1/5 | NM_000451.4 | P1 | ||
SHOX | ENST00000381575.6 | c.63C>G | p.Gly21= | synonymous_variant | 1/5 | 1 | |||
SHOX | ENST00000381578.6 | c.63C>G | p.Gly21= | synonymous_variant | 2/6 | 5 | P1 | ||
SHOX | ENST00000334060.8 | c.63C>G | p.Gly21= | synonymous_variant | 2/6 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74324
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461000Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726804
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152140Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at