chr16-2521049-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001330449.2(AMDHD2):c.286C>T(p.Arg96Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000869 in 1,611,060 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001330449.2 missense
Scores
Clinical Significance
Conservation
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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>T | p.Arg96Trp | missense_variant | Exon 3 of 11 | 1 | NM_001330449.2 | ENSP00000293971.6 | ||
ENSG00000259784 | ENST00000569317.1 | c.145C>T | p.Arg49Trp | missense_variant | Exon 2 of 4 | 3 | ENSP00000455561.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152150Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248808Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134434
GnomAD4 exome AF: 0.00000617 AC: 9AN: 1458910Hom.: 0 Cov.: 33 AF XY: 0.00000827 AC XY: 6AN XY: 725528
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152150Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.286C>T (p.R96W) alteration is located in exon 3 (coding exon 3) of the AMDHD2 gene. This alteration results from a C to T substitution at nucleotide position 286, causing the arginine (R) at amino acid position 96 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at