17-8379817-G-A
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_000987.5(RPL26):c.288C>T(p.His96His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000366 in 1,613,080 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 (★★).
Frequency
Consequence
NM_000987.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPL26 | NM_000987.5 | c.288C>T | p.His96His | synonymous_variant | Exon 3 of 4 | ENST00000648839.1 | NP_000978.1 | |
RPL26 | NM_001315530.2 | c.288C>T | p.His96His | synonymous_variant | Exon 3 of 4 | NP_001302459.1 | ||
RPL26 | NM_001315531.2 | c.288C>T | p.His96His | synonymous_variant | Exon 3 of 4 | NP_001302460.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RPL26 | ENST00000648839.1 | c.288C>T | p.His96His | synonymous_variant | Exon 3 of 4 | NM_000987.5 | ENSP00000498177.1 | |||
ENSG00000263809 | ENST00000582471.1 | n.288C>T | non_coding_transcript_exon_variant | Exon 3 of 6 | 5 | ENSP00000463847.1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152084Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000320 AC: 8AN: 250356Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135266
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1460878Hom.: 0 Cov.: 30 AF XY: 0.0000316 AC XY: 23AN XY: 726698
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74396
ClinVar
Submissions by phenotype
Diamond-Blackfan anemia Benign:2
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at