rs4802
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_006597.6(HSPA8):c.1761T>G(p.Ala587=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000482 in 1,453,152 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006597.6 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 |
---|---|---|---|---|---|---|---|
HSPA8 | NM_006597.6 | c.1761T>G | p.Ala587= | synonymous_variant | 9/9 | ENST00000534624.6 | |
HSPA8 | XM_011542798.2 | c.1761T>G | p.Ala587= | synonymous_variant | 9/9 | ||
HSPA8 | NM_153201.4 | c.1388-86T>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HSPA8 | ENST00000534624.6 | c.1761T>G | p.Ala587= | synonymous_variant | 9/9 | 1 | NM_006597.6 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000412 AC: 1AN: 242580Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131310
GnomAD4 exome AF: 0.00000482 AC: 7AN: 1453152Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 722672
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at