chr14-53152819-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001160148.2(DDHD1):c.280G>A(p.Ala94Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,966 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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. A94P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001160148.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DDHD1 | NM_001160148.2 | c.280G>A | p.Ala94Thr | missense_variant | 1/13 | ENST00000673822.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DDHD1 | ENST00000673822.2 | c.280G>A | p.Ala94Thr | missense_variant | 1/13 | NM_001160148.2 | A2 | ||
DDHD1 | ENST00000357758.3 | c.280G>A | p.Ala94Thr | missense_variant | 1/12 | 1 | P4 | ||
DDHD1 | ENST00000395606.5 | c.280G>A | p.Ala94Thr | missense_variant | 1/13 | 2 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 243728Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132870
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459966Hom.: 0 Cov.: 112 AF XY: 0.00 AC XY: 0AN XY: 726200
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at