19-55274407-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_012267.5(HSPBP1):c.631G>T(p.Ala211Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000346 in 1,155,974 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 (★).
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 Cov.: 30
GnomAD3 exomes AF: 0.00000567 AC: 1AN: 176518Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 97286
GnomAD4 exome AF: 0.00000346 AC: 4AN: 1155974Hom.: 0 Cov.: 36 AF XY: 0.00000527 AC XY: 3AN XY: 569058
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.631G>T (p.A211S) alteration is located in exon 4 (coding exon 3) of the HSPBP1 gene. This alteration results from a G to T substitution at nucleotide position 631, causing the alanine (A) at amino acid position 211 to be replaced by a serine (S). 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