rs1554340243
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PM4PP5_Moderate
The NM_017909.4(RMND1):āc.1348T>Cā(p.Ter450ArgextTer31) variant causes a stop lost change. The variant allele was found at a frequency of 0.000000685 in 1,460,310 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (ā ). Synonymous variant affecting the same amino acid position (i.e. *450*) has been classified as Benign.
Frequency
Consequence
NM_017909.4 stop_lost
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RMND1 | NM_017909.4 | c.1348T>C | p.Ter450ArgextTer31 | stop_lost | 12/12 | ENST00000444024.3 | |
RMND1 | NM_001271937.2 | c.838T>C | p.Ter280ArgextTer31 | stop_lost | 11/11 | ||
RMND1 | XM_047418959.1 | c.1348T>C | p.Ter450ArgextTer31 | stop_lost | 12/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RMND1 | ENST00000444024.3 | c.1348T>C | p.Ter450ArgextTer31 | stop_lost | 12/12 | 3 | NM_017909.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460310Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 726606
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at