rs145660527
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000996.4(RPL35A):c.21C>G(p.Ser7=) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S7S) has been classified as Likely benign.
Frequency
Consequence
NM_000996.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RPL35A | NM_000996.4 | c.21C>G | p.Ser7= | synonymous_variant | 3/5 | ENST00000647248.2 | |
IQCG | NM_032263.5 | c.-59-5482G>C | intron_variant | ENST00000265239.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPL35A | ENST00000647248.2 | c.21C>G | p.Ser7= | synonymous_variant | 3/5 | NM_000996.4 | P1 | ||
IQCG | ENST00000265239.11 | c.-59-5482G>C | intron_variant | 1 | NM_032263.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at