2-176092922-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000523.4(HOXD13):c.32G>T(p.Gly11Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000015 in 1,329,566 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. G11A) has been classified as Likely benign.
Frequency
Consequence
NM_000523.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HOXD13 | NM_000523.4 | c.32G>T | p.Gly11Val | missense_variant | 1/2 | ENST00000392539.4 | |
HOXD13 | XM_011511068.3 | c.725-1558G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HOXD13 | ENST00000392539.4 | c.32G>T | p.Gly11Val | missense_variant | 1/2 | 1 | NM_000523.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151682Hom.: 0 Cov.: 33
GnomAD4 exome AF: 8.49e-7 AC: 1AN: 1177884Hom.: 0 Cov.: 30 AF XY: 0.00000174 AC XY: 1AN XY: 575024
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151682Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74078
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at