chr17-42990352-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173079.5(RUNDC1):c.892C>T(p.His298Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173079.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RUNDC1 | NM_173079.5 | c.892C>T | p.His298Tyr | missense_variant | Exon 4 of 5 | ENST00000361677.6 | NP_775102.3 | |
RUNDC1 | NM_001321381.3 | c.898C>T | p.His300Tyr | missense_variant | Exon 5 of 6 | NP_001308310.2 | ||
RUNDC1 | NM_001394222.1 | c.892C>T | p.His298Tyr | missense_variant | Exon 4 of 5 | NP_001381151.1 | ||
RUNDC1 | XM_005257078.5 | c.898C>T | p.His300Tyr | missense_variant | Exon 5 of 6 | XP_005257135.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RUNDC1 | ENST00000361677.6 | c.892C>T | p.His298Tyr | missense_variant | Exon 4 of 5 | 1 | NM_173079.5 | ENSP00000354622.1 | ||
RUNDC1 | ENST00000589705.1 | c.687C>T | p.Asp229Asp | synonymous_variant | Exon 3 of 4 | 5 | ENSP00000467953.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251270Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135842
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461778Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727176
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.892C>T (p.H298Y) alteration is located in exon 4 (coding exon 4) of the RUNDC1 gene. This alteration results from a C to T substitution at nucleotide position 892, causing the histidine (H) at amino acid position 298 to be replaced by a tyrosine (Y). 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