chr19-41868778-C-T
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001022.4(RPS19):c.173-253C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,036 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.
Frequency
Consequence
NM_001022.4 intron
Scores
Clinical Significance
Conservation
Publications
- Diamond-Blackfan anemiaInheritance: AD Classification: DEFINITIVE, SUPPORTIVE Submitted by: ClinGen, Orphanet
- Diamond-Blackfan anemia 1Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), G2P, Ambry Genetics
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPS19 | NM_001022.4 | c.173-253C>T | intron_variant | Intron 3 of 5 | ENST00000598742.6 | NP_001013.1 | ||
RPS19 | NM_001321485.2 | c.186-253C>T | intron_variant | Intron 3 of 5 | NP_001308414.1 | |||
RPS19 | NM_001321483.2 | c.173-253C>T | intron_variant | Intron 3 of 5 | NP_001308412.1 | |||
RPS19 | NM_001321484.2 | c.173-253C>T | intron_variant | Intron 3 of 5 | NP_001308413.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152036Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152036Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74238 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at