chr12-47787746-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_015401.5(HDAC7):c.2419C>G(p.Pro807Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000011 in 1,460,240 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P807H) has been classified as Uncertain significance.
Frequency
Consequence
NM_015401.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HDAC7 | NM_015401.5 | c.2419C>G | p.Pro807Ala | missense_variant | 21/26 | ENST00000080059.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HDAC7 | ENST00000080059.12 | c.2419C>G | p.Pro807Ala | missense_variant | 21/26 | 1 | NM_015401.5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000162 AC: 4AN: 247216Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 134086
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1460240Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 726278
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 22, 2023 | The c.2419C>G (p.P807A) alteration is located in exon 21 (coding exon 21) of the HDAC7 gene. This alteration results from a C to G substitution at nucleotide position 2419, causing the proline (P) at amino acid position 807 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at