rs35817516
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_021193.4(HOXD12):c.557G>A(p.Arg186Gln) variant causes a missense change. The variant allele was found at a frequency of 0.126 in 1,612,120 control chromosomes in the GnomAD database, including 14,203 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_021193.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HOXD12 | NM_021193.4 | c.557G>A | p.Arg186Gln | missense_variant | 1/2 | ENST00000406506.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HOXD12 | ENST00000406506.4 | c.557G>A | p.Arg186Gln | missense_variant | 1/2 | 3 | NM_021193.4 | P1 | |
HOXD12 | ENST00000404162.2 | c.557G>A | p.Arg186Gln | missense_variant | 1/2 | 1 |
Frequencies
GnomAD3 genomes AF: 0.101 AC: 15321AN: 152164Hom.: 992 Cov.: 33
GnomAD3 exomes AF: 0.121 AC: 29098AN: 240584Hom.: 2284 AF XY: 0.117 AC XY: 15512AN XY: 132482
GnomAD4 exome AF: 0.128 AC: 187560AN: 1459838Hom.: 13210 Cov.: 33 AF XY: 0.127 AC XY: 92311AN XY: 726216
GnomAD4 genome AF: 0.101 AC: 15320AN: 152282Hom.: 993 Cov.: 33 AF XY: 0.100 AC XY: 7458AN XY: 74464
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at