2-178465904-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_001410972.1(FKBP7):c.401G>C(p.Ter134Serext*?) variant causes a stop lost change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000274 in 1,604,510 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_001410972.1 stop_lost
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152120Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000829 AC: 2AN: 241266Hom.: 0 AF XY: 0.0000154 AC XY: 2AN XY: 130200
GnomAD4 exome AF: 0.0000282 AC: 41AN: 1452272Hom.: 0 Cov.: 32 AF XY: 0.0000249 AC XY: 18AN XY: 721976
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152238Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74438
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.535G>C (p.E179Q) alteration is located in exon 4 (coding exon 4) of the FKBP7 gene. This alteration results from a G to C substitution at nucleotide position 535, causing the glutamic acid (E) at amino acid position 179 to be replaced by a glutamine (Q). 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