16-86510626-CGGG-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP6BS2
The NM_001451.3(FOXF1):c.60_62delGGG(p.Gly21del) variant causes a disruptive inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000926 in 1,392,804 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001451.3 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000583 AC: 88AN: 151058Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000410 AC: 22AN: 53638Hom.: 0 AF XY: 0.000379 AC XY: 12AN XY: 31696
GnomAD4 exome AF: 0.000968 AC: 1202AN: 1241634Hom.: 1 AF XY: 0.000995 AC XY: 605AN XY: 608182
GnomAD4 genome AF: 0.000582 AC: 88AN: 151170Hom.: 0 Cov.: 33 AF XY: 0.000501 AC XY: 37AN XY: 73898
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
FOXF1: BS1, BS2 -
This variant, c.60_62del, results in the deletion of 1 amino acid(s) of the FOXF1 protein (p.Gly23del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with FOXF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 320787). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Alveolar capillary dysplasia with pulmonary venous misalignment Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at