chr7-27156494-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006896.4(HOXA7):āc.52G>Cā(p.Ala18Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. A18T) has been classified as Likely benign.
Frequency
Consequence
NM_006896.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HOXA7 | NM_006896.4 | c.52G>C | p.Ala18Pro | missense_variant | 1/2 | ENST00000242159.5 | NP_008827.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HOXA7 | ENST00000242159.5 | c.52G>C | p.Ala18Pro | missense_variant | 1/2 | 1 | NM_006896.4 | ENSP00000242159 | P1 | |
HOXA7 | ENST00000519842.1 | c.52G>C | p.Ala18Pro | missense_variant | 3/3 | 3 | ENSP00000428563 |
Frequencies
GnomAD3 genomes Cov.: 35
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1444610Hom.: 0 Cov.: 43 AF XY: 0.00 AC XY: 0AN XY: 716234
GnomAD4 genome Cov.: 35
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at