rs11551598
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_006597.6(HSPA8):c.1375T>C(p.Phe459Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_006597.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HSPA8 | NM_006597.6 | c.1375T>C | p.Phe459Leu | missense_variant | Exon 7 of 9 | ENST00000534624.6 | NP_006588.1 | |
HSPA8 | NM_153201.4 | c.1375T>C | p.Phe459Leu | missense_variant | Exon 7 of 8 | NP_694881.1 | ||
HSPA8 | XM_011542798.2 | c.1375T>C | p.Phe459Leu | missense_variant | Exon 7 of 9 | XP_011541100.1 | ||
SNORD14D | NR_001454.2 | n.*130T>C | downstream_gene_variant |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at