7-4740929-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001037165.2(FOXK1):c.652C>G(p.Leu218Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000488 in 1,433,976 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_001037165.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000445 AC: 1AN: 224500Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 122344
GnomAD4 exome AF: 0.00000488 AC: 7AN: 1433976Hom.: 0 Cov.: 34 AF XY: 0.00000421 AC XY: 3AN XY: 713016
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.652C>G (p.L218V) alteration is located in exon 2 (coding exon 2) of the FOXK1 gene. This alteration results from a C to G substitution at nucleotide position 652, causing the leucine (L) at amino acid position 218 to be replaced by a valine (V). 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