X-57592067-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_007157.4(ZXDB):c.19C>T(p.Leu7Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000135 in 1,034,637 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007157.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000269 AC: 3AN: 111537Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33739
GnomAD4 exome AF: 0.0000119 AC: 11AN: 923058Hom.: 0 Cov.: 28 AF XY: 0.00000696 AC XY: 2AN XY: 287558
GnomAD4 genome AF: 0.0000269 AC: 3AN: 111579Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33791
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.19C>T (p.L7F) alteration is located in exon 1 (coding exon 1) of the ZXDB gene. This alteration results from a C to T substitution at nucleotide position 19, causing the leucine (L) at amino acid position 7 to be replaced by a phenylalanine (F). 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