13-49549530-G-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PM2PM5
The NM_018191.4(RCBTB1):c.973C>G(p.His325Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. H325Y) has been classified as Pathogenic.
Frequency
Consequence
NM_018191.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
RCBTB1 | ENST00000378302.7 | c.973C>G | p.His325Asp | missense_variant | Exon 9 of 13 | 1 | NM_018191.4 | ENSP00000367552.2 | ||
RCBTB1 | ENST00000258646.3 | c.973C>G | p.His325Asp | missense_variant | Exon 7 of 11 | 2 | ENSP00000258646.3 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 37
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.