NM_145004.7:c.826C>G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_145004.7(ADAM32):c.826C>G(p.Leu276Val) 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. L276I) has been classified as Uncertain significance.
Frequency
Consequence
NM_145004.7 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADAM32 | NM_145004.7 | c.826C>G | p.Leu276Val | missense_variant | Exon 9 of 25 | ENST00000379907.9 | NP_659441.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADAM32 | ENST00000379907.9 | c.826C>G | p.Leu276Val | missense_variant | Exon 9 of 25 | 1 | NM_145004.7 | ENSP00000369238.4 | ||
ADAM32 | ENST00000519315.5 | c.826C>G | p.Leu276Val | missense_variant | Exon 9 of 19 | 1 | ENSP00000429422.1 | |||
ADAM32 | ENST00000437682.6 | c.847C>G | p.Leu283Val | missense_variant | Exon 8 of 22 | 2 | ENSP00000405978.2 | |||
ADAM32 | ENST00000518259.1 | n.854C>G | non_coding_transcript_exon_variant | Exon 9 of 11 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at