rs147644619
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_001365999.1(SZT2):c.3570C>G(p.Val1190=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,154 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 benign (★). Synonymous variant affecting the same amino acid position (i.e. V1190V) has been classified as Likely benign.
Frequency
Consequence
NM_001365999.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SZT2 | NM_001365999.1 | c.3570C>G | p.Val1190= | synonymous_variant | 25/72 | ENST00000634258.3 | |
SZT2 | NM_015284.4 | c.3399C>G | p.Val1133= | synonymous_variant | 24/71 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SZT2 | ENST00000634258.3 | c.3570C>G | p.Val1190= | synonymous_variant | 25/72 | 5 | NM_001365999.1 | P1 | |
SZT2 | ENST00000562955.2 | c.3399C>G | p.Val1133= | synonymous_variant | 24/71 | 5 | |||
SZT2 | ENST00000470139.1 | c.*437C>G | 3_prime_UTR_variant, NMD_transcript_variant | 16/18 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250744Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135488
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461154Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 726806
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Aug 27, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at