NM_001540.5:c.379C>A
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP7BS2
The NM_001540.5(HSPB1):c.379C>A(p.Arg127Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000783 in 1,583,972 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001540.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000271 AC: 4AN: 147666Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248804Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135306
GnomAD4 exome AF: 0.0000835 AC: 120AN: 1436306Hom.: 0 Cov.: 33 AF XY: 0.0000770 AC XY: 55AN XY: 714548
GnomAD4 genome AF: 0.0000271 AC: 4AN: 147666Hom.: 0 Cov.: 32 AF XY: 0.0000139 AC XY: 1AN XY: 71998
ClinVar
Submissions by phenotype
Charcot-Marie-Tooth disease axonal type 2F Uncertain:1
This sequence change affects codon 127 of the HSPB1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the HSPB1 protein. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has been observed in individual(s) with hereditary motor neuropathy (PMID: 18832141). ClinVar contains an entry for this variant (Variation ID: 935664). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at