chr19-55274424-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_012267.5(HSPBP1):c.614G>A(p.Arg205His) variant causes a missense change. The variant allele was found at a frequency of 0.0000147 in 1,568,378 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R205C) has been classified 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 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000664 AC: 1AN: 150606Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000209 AC: 4AN: 191798Hom.: 0 AF XY: 0.00000946 AC XY: 1AN XY: 105710
GnomAD4 exome AF: 0.0000155 AC: 22AN: 1417772Hom.: 0 Cov.: 36 AF XY: 0.0000156 AC XY: 11AN XY: 703706
GnomAD4 genome AF: 0.00000664 AC: 1AN: 150606Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73420
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.614G>A (p.R205H) alteration is located in exon 4 (coding exon 3) of the HSPBP1 gene. This alteration results from a G to A substitution at nucleotide position 614, causing the arginine (R) at amino acid position 205 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