19-55265312-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012267.5(HSPBP1):c.971G>A(p.Arg324His) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,612,820 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012267.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HSPBP1 | ENST00000433386.7 | c.971G>A | p.Arg324His | missense_variant | Exon 7 of 8 | 1 | NM_012267.5 | ENSP00000398244.1 | ||
HSPBP1 | ENST00000255631.9 | c.971G>A | p.Arg324His | missense_variant | Exon 8 of 9 | 1 | ENSP00000255631.4 | |||
HSPBP1 | ENST00000587922.5 | c.971G>A | p.Arg324His | missense_variant | Exon 6 of 7 | 1 | ENSP00000467574.1 | |||
HSPBP1 | ENST00000585927.1 | c.501-8G>A | splice_region_variant, intron_variant | Intron 3 of 4 | 5 | ENSP00000466569.1 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151632Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249884Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135194
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461188Hom.: 0 Cov.: 33 AF XY: 0.0000124 AC XY: 9AN XY: 726938
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151632Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 74022
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.971G>A (p.R324H) alteration is located in exon 7 (coding exon 6) of the HSPBP1 gene. This alteration results from a G to A substitution at nucleotide position 971, causing the arginine (R) at amino acid position 324 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at