chr19-55274512-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012267.5(HSPBP1):c.526G>A(p.Val176Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000063 in 1,603,292 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152208Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000266 AC: 6AN: 225218Hom.: 0 AF XY: 0.0000323 AC XY: 4AN XY: 123978
GnomAD4 exome AF: 0.0000641 AC: 93AN: 1451084Hom.: 1 Cov.: 36 AF XY: 0.0000651 AC XY: 47AN XY: 721626
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152208Hom.: 0 Cov.: 31 AF XY: 0.0000672 AC XY: 5AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.526G>A (p.V176M) 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 526, causing the valine (V) at amino acid position 176 to be replaced by a methionine (M). 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