7-27173521-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018951.4(HOXA10):c.786T>G(p.Asp262Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 10/13 in silico tools predict a benign outcome for this variant. 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. D262N) has been classified as Uncertain significance.
Frequency
Consequence
NM_018951.4 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 |
---|---|---|---|---|---|---|---|
HOXA10 | NM_018951.4 | c.786T>G | p.Asp262Glu | missense_variant | 1/2 | ENST00000283921.5 | |
HOXA10-HOXA9 | NR_037940.1 | n.616+6125T>G | intron_variant, non_coding_transcript_variant | ||||
HOXA10 | NR_037939.2 | n.217-1348T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HOXA10 | ENST00000283921.5 | c.786T>G | p.Asp262Glu | missense_variant | 1/2 | 1 | NM_018951.4 | P2 | |
HOXA10 | ENST00000396344.4 | c.11-1348T>G | intron_variant | 1 | A1 | ||||
HOXA9 | ENST00000465941.1 | n.479+1181T>G | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.