chr19-55593136-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_032836.3(FIZ1):c.805G>A(p.Ala269Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000797 in 1,204,214 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032836.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FIZ1 | NM_032836.3 | c.805G>A | p.Ala269Thr | missense_variant | Exon 3 of 3 | ENST00000221665.5 | NP_116225.2 | |
FIZ1 | XM_005259352.5 | c.805G>A | p.Ala269Thr | missense_variant | Exon 3 of 3 | XP_005259409.1 | ||
FIZ1 | XM_047439564.1 | c.805G>A | p.Ala269Thr | missense_variant | Exon 2 of 2 | XP_047295520.1 | ||
FIZ1 | XM_011527426.3 | c.787G>A | p.Ala263Thr | missense_variant | Exon 2 of 2 | XP_011525728.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 31AN: 147876Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00101 AC: 4AN: 3944Hom.: 0 AF XY: 0.000402 AC XY: 1AN XY: 2490
GnomAD4 exome AF: 0.0000615 AC: 65AN: 1056230Hom.: 1 Cov.: 36 AF XY: 0.0000806 AC XY: 41AN XY: 508820
GnomAD4 genome AF: 0.000209 AC: 31AN: 147984Hom.: 0 Cov.: 33 AF XY: 0.000263 AC XY: 19AN XY: 72120
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.805G>A (p.A269T) alteration is located in exon 3 (coding exon 2) of the FIZ1 gene. This alteration results from a G to A substitution at nucleotide position 805, causing the alanine (A) at amino acid position 269 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