rs2277923
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM5
The NM_004387.4(NKX2-5):c.63A>T(p.Glu21Asp) 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. E21Q) has been classified as Likely benign.
Frequency
Consequence
NM_004387.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NKX2-5 | NM_004387.4 | c.63A>T | p.Glu21Asp | missense_variant | 1/2 | ENST00000329198.5 | |
NKX2-5 | NM_001166176.2 | c.63A>T | p.Glu21Asp | missense_variant | 1/2 | ||
NKX2-5 | NM_001166175.2 | c.63A>T | p.Glu21Asp | missense_variant | 1/2 | ||
NKX2-5 | XM_017009071.3 | c.63A>T | p.Glu21Asp | missense_variant | 1/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NKX2-5 | ENST00000329198.5 | c.63A>T | p.Glu21Asp | missense_variant | 1/2 | 1 | NM_004387.4 | P1 | |
NKX2-5 | ENST00000424406.2 | c.63A>T | p.Glu21Asp | missense_variant | 1/2 | 1 | |||
NKX2-5 | ENST00000521848.1 | c.63A>T | p.Glu21Asp | missense_variant | 1/2 | 2 | |||
NKX2-5 | ENST00000517440.1 | c.63A>T | p.Glu21Asp | missense_variant | 1/2 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 43
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at