chr16-2324484-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001089.3(ABCA3):c.367G>C(p.Asp123His) 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 pathogenic 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. D123N) has been classified as Likely benign.
Frequency
Consequence
NM_001089.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCA3 | NM_001089.3 | c.367G>C | p.Asp123His | missense_variant | 6/33 | ENST00000301732.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCA3 | ENST00000301732.10 | c.367G>C | p.Asp123His | missense_variant | 6/33 | 1 | NM_001089.3 | P1 | |
ABCA3 | ENST00000382381.7 | c.367G>C | p.Asp123His | missense_variant | 6/32 | 1 | |||
ABCA3 | ENST00000567910.1 | c.367G>C | p.Asp123His | missense_variant | 5/6 | 1 | |||
ABCA3 | ENST00000563623.5 | n.930G>C | non_coding_transcript_exon_variant | 6/20 | 1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at