NM_145004.7:c.812A>G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_145004.7(ADAM32):āc.812A>Gā(p.His271Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000127 in 1,570,008 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. H271L) has been classified as Uncertain significance.
Frequency
Consequence
NM_145004.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADAM32 | NM_145004.7 | c.812A>G | p.His271Arg | 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.812A>G | p.His271Arg | missense_variant | Exon 9 of 25 | 1 | NM_145004.7 | ENSP00000369238.4 | ||
ADAM32 | ENST00000519315.5 | c.812A>G | p.His271Arg | missense_variant | Exon 9 of 19 | 1 | ENSP00000429422.1 | |||
ADAM32 | ENST00000437682.6 | c.833A>G | p.His278Arg | missense_variant | Exon 8 of 22 | 2 | ENSP00000405978.2 | |||
ADAM32 | ENST00000518259.1 | n.840A>G | non_coding_transcript_exon_variant | Exon 9 of 11 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 32
GnomAD4 exome AF: 7.05e-7 AC: 1AN: 1417832Hom.: 0 Cov.: 30 AF XY: 0.00000142 AC XY: 1AN XY: 706410
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74342
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at