rs201767217
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001365999.1(SZT2):c.3511G>A(p.Gly1171Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. 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. G1171W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001365999.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SZT2 | NM_001365999.1 | c.3511G>A | p.Gly1171Arg | missense_variant | 25/72 | ENST00000634258.3 | |
SZT2 | NM_015284.4 | c.3340G>A | p.Gly1114Arg | missense_variant | 24/71 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SZT2 | ENST00000634258.3 | c.3511G>A | p.Gly1171Arg | missense_variant | 25/72 | 5 | NM_001365999.1 | P1 | |
SZT2 | ENST00000562955.2 | c.3340G>A | p.Gly1114Arg | missense_variant | 24/71 | 5 | |||
SZT2 | ENST00000470139.1 | c.*378G>A | 3_prime_UTR_variant, NMD_transcript_variant | 16/18 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at