rs374799227
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 3P and 12B. PP2PP3_ModerateBP6_Very_StrongBS2
The NM_001363.5(DKC1):c.415G>A(p.Ala139Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000455 in 1,208,664 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 18 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. A139A) has been classified as Likely benign.
Frequency
Consequence
NM_001363.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DKC1 | NM_001363.5 | c.415G>A | p.Ala139Thr | missense_variant | 5/15 | ENST00000369550.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DKC1 | ENST00000369550.10 | c.415G>A | p.Ala139Thr | missense_variant | 5/15 | 1 | NM_001363.5 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000362 AC: 4AN: 110590Hom.: 0 Cov.: 22 AF XY: 0.0000305 AC XY: 1AN XY: 32796
GnomAD3 exomes AF: 0.0000546 AC: 10AN: 183208Hom.: 0 AF XY: 0.0000591 AC XY: 4AN XY: 67700
GnomAD4 exome AF: 0.0000464 AC: 51AN: 1098074Hom.: 0 Cov.: 33 AF XY: 0.0000468 AC XY: 17AN XY: 363428
GnomAD4 genome ? AF: 0.0000362 AC: 4AN: 110590Hom.: 0 Cov.: 22 AF XY: 0.0000305 AC XY: 1AN XY: 32796
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jan 01, 2020 | - - |
Dyskeratosis congenita Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 01, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at