rs1554687745
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012144.4(DNAI1):c.485A>G(p.Asp162Gly) 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. 14/23 in silico tools predict a benign outcome for this variant. 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. D162V) has been classified as Uncertain significance.
Frequency
Consequence
NM_012144.4 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 | UniProt |
---|---|---|---|---|---|---|---|
DNAI1 | NM_012144.4 | c.485A>G | p.Asp162Gly | missense_variant | 6/20 | ENST00000242317.9 | |
DNAI1 | NM_001281428.2 | c.497A>G | p.Asp166Gly | missense_variant | 6/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAI1 | ENST00000242317.9 | c.485A>G | p.Asp162Gly | missense_variant | 6/20 | 1 | NM_012144.4 | ||
DNAI1 | ENST00000614641.4 | c.497A>G | p.Asp166Gly | missense_variant | 6/20 | 5 | P1 | ||
DNAI1 | ENST00000437363.5 | c.452A>G | p.Asp151Gly | missense_variant | 5/9 | 5 | |||
DNAI1 | ENST00000488369.1 | n.601A>G | non_coding_transcript_exon_variant | 6/9 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at