rs539689
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Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_005346.6(HSPA1B):āc.1860C>Gā(p.Gly620=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.523 in 151,050 control chromosomes in the GnomAD database, including 21,143 homozygotes. 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
Genomes: š 0.52 ( 21143 hom., cov: 27)
Exomes š: 0.51 ( 195339 hom. )
Failed GnomAD Quality Control
Consequence
HSPA1B
NM_005346.6 synonymous
NM_005346.6 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -3.52
Genes affected
HSPA1B (HGNC:5233): (heat shock protein family A (Hsp70) member 1B) This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -13 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.87).
BP7
Synonymous conserved (PhyloP=-3.52 with no splicing effect.
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.632 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HSPA1B | NM_005346.6 | c.1860C>G | p.Gly620= | synonymous_variant | 1/1 | ENST00000375650.5 | NP_005337.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HSPA1B | ENST00000375650.5 | c.1860C>G | p.Gly620= | synonymous_variant | 1/1 | NM_005346.6 | ENSP00000364801 | P1 |
Frequencies
GnomAD3 genomes AF: 0.523 AC: 78891AN: 150932Hom.: 21120 Cov.: 27
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GnomAD3 exomes AF: 0.574 AC: 125453AN: 218688Hom.: 41028 AF XY: 0.576 AC XY: 68486AN XY: 118948
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.511 AC: 670450AN: 1313160Hom.: 195339 Cov.: 61 AF XY: 0.516 AC XY: 337559AN XY: 653738
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Data not reliable, filtered out with message: AS_VQSR
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GnomAD4 genome AF: 0.523 AC: 78955AN: 151050Hom.: 21143 Cov.: 27 AF XY: 0.533 AC XY: 39280AN XY: 73716
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at