rs192401229
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006947.4(SRP72):c.1589T>A(p.Ile530Asn) 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. I530T) has been classified as Likely benign.
Frequency
Consequence
NM_006947.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRP72 | NM_006947.4 | c.1589T>A | p.Ile530Asn | missense_variant | 16/19 | ENST00000642900.1 | |
SRP72 | NM_001267722.2 | c.1406T>A | p.Ile469Asn | missense_variant | 14/17 | ||
SRP72 | XM_024454192.2 | c.1589T>A | p.Ile530Asn | missense_variant | 16/17 | ||
SRP72 | NR_151856.2 | n.1608T>A | non_coding_transcript_exon_variant | 16/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRP72 | ENST00000642900.1 | c.1589T>A | p.Ile530Asn | missense_variant | 16/19 | NM_006947.4 | P1 | ||
SRP72 | ENST00000510663.6 | c.1406T>A | p.Ile469Asn | missense_variant | 14/17 | 1 | |||
SRP72 | ENST00000646579.1 | n.600T>A | non_coding_transcript_exon_variant | 6/6 | |||||
SRP72 | ENST00000647432.1 | n.691T>A | non_coding_transcript_exon_variant | 4/5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251322Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135824
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at