1-169376875-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001320973.2(BLZF1):c.364G>A(p.Glu122Lys) variant causes a missense change. The variant allele was found at a frequency of 0.000018 in 1,613,038 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_001320973.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BLZF1 | NM_001320973.2 | c.364G>A | p.Glu122Lys | missense_variant | Exon 3 of 7 | ENST00000367808.8 | NP_001307902.1 | |
BLZF1 | NM_003666.4 | c.364G>A | p.Glu122Lys | missense_variant | Exon 3 of 8 | NP_003657.1 | ||
BLZF1 | NM_001320972.2 | c.364G>A | p.Glu122Lys | missense_variant | Exon 3 of 3 | NP_001307901.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151962Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249646Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135348
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461076Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 726858
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151962Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74220
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.364G>A (p.E122K) alteration is located in exon 3 (coding exon 2) of the BLZF1 gene. This alteration results from a G to A substitution at nucleotide position 364, causing the glutamic acid (E) at amino acid position 122 to be replaced by a lysine (K). 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