19-35755533-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_144617.3(HSPB6):c.472G>A(p.Ala158Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000767 in 1,499,454 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_144617.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HSPB6 | ENST00000004982.6 | c.472G>A | p.Ala158Thr | missense_variant | Exon 3 of 3 | 1 | NM_144617.3 | ENSP00000004982.3 | ||
HSPB6 | ENST00000587965 | c.*146G>A | 3_prime_UTR_variant | Exon 2 of 2 | 2 | ENSP00000467169.1 | ||||
HSPB6 | ENST00000592984.6 | c.*106G>A | downstream_gene_variant | 4 | ENSP00000468057.2 | |||||
ENSG00000267328 | ENST00000587767.1 | n.*43C>T | downstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000330 AC: 5AN: 151692Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000625 AC: 7AN: 112042Hom.: 0 AF XY: 0.0000323 AC XY: 2AN XY: 61940
GnomAD4 exome AF: 0.0000816 AC: 110AN: 1347762Hom.: 0 Cov.: 37 AF XY: 0.0000723 AC XY: 48AN XY: 664232
GnomAD4 genome AF: 0.0000330 AC: 5AN: 151692Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74064
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.472G>A (p.A158T) alteration is located in exon 3 (coding exon 3) of the HSPB6 gene. This alteration results from a G to A substitution at nucleotide position 472, causing the alanine (A) at amino acid position 158 to be replaced by a threonine (T). 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