16-2521089-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001330449.2(AMDHD2):c.326C>T(p.Thr109Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000000689 in 1,451,668 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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 Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AMDHD2 | ENST00000293971.11 | c.326C>T | p.Thr109Ile | missense_variant | Exon 3 of 11 | 1 | NM_001330449.2 | ENSP00000293971.6 | ||
ENSG00000259784 | ENST00000569317.1 | c.185C>T | p.Thr62Ile | missense_variant | Exon 2 of 4 | 3 | ENSP00000455561.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000405 AC: 1AN: 246906Hom.: 0 AF XY: 0.00000749 AC XY: 1AN XY: 133468
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1451668Hom.: 0 Cov.: 33 AF XY: 0.00000139 AC XY: 1AN XY: 720622
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.326C>T (p.T109I) 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 326, causing the threonine (T) at amino acid position 109 to be replaced by an isoleucine (I). 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