rs1060503048
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_021930.6(RINT1):c.2126C>G(p.Thr709Ser) 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. 11/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_021930.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RINT1 | NM_021930.6 | c.2126C>G | p.Thr709Ser | missense_variant | 14/15 | ENST00000257700.7 | NP_068749.3 | |
EFCAB10 | NM_001355526.2 | c.384-141G>C | intron_variant | ENST00000480514.6 | NP_001342455.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RINT1 | ENST00000257700.7 | c.2126C>G | p.Thr709Ser | missense_variant | 14/15 | 1 | NM_021930.6 | ENSP00000257700.2 | ||
EFCAB10 | ENST00000480514.6 | c.384-141G>C | intron_variant | 1 | NM_001355526.2 | ENSP00000418678.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
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.