chr9-137008616-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001606.5(ABCA2):c.7075G>C(p.Val2359Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V2359M) has been classified as Uncertain significance.
Frequency
Consequence
NM_001606.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABCA2 | NM_001606.5 | c.7075G>C | p.Val2359Leu | missense_variant | Exon 48 of 49 | ENST00000341511.11 | NP_001597.2 | |
ABCA2 | NM_212533.3 | c.7165G>C | p.Val2389Leu | missense_variant | Exon 48 of 49 | NP_997698.1 | ||
ABCA2 | NM_001411042.1 | c.7072G>C | p.Val2358Leu | missense_variant | Exon 47 of 48 | NP_001397971.1 | ||
ABCA2 | XM_047422921.1 | c.7162G>C | p.Val2388Leu | missense_variant | Exon 47 of 48 | XP_047278877.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 42
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Intellectual developmental disorder with poor growth and with or without seizures or ataxia Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.