rs779976517
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001330449.2(AMDHD2):āc.286C>Gā(p.Arg96Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,611,060 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R96W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001330449.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AMDHD2 | ENST00000293971.11 | c.286C>G | p.Arg96Gly | missense_variant | Exon 3 of 11 | 1 | NM_001330449.2 | ENSP00000293971.6 | ||
ENSG00000259784 | ENST00000569317.1 | c.145C>G | p.Arg49Gly | missense_variant | Exon 2 of 4 | 3 | ENSP00000455561.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152150Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1458910Hom.: 0 Cov.: 33 AF XY: 0.00000276 AC XY: 2AN XY: 725528
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152150Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at