NM_004496.5:c.856G>T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_004496.5(FOXA1):c.856G>T(p.Gly286Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000537 in 1,490,678 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004496.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000104 AC: 1AN: 95988Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 50774
GnomAD4 exome AF: 0.00000523 AC: 7AN: 1338496Hom.: 0 Cov.: 30 AF XY: 0.00000152 AC XY: 1AN XY: 655802
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152182Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.856G>T (p.G286C) alteration is located in exon 2 (coding exon 2) of the FOXA1 gene. This alteration results from a G to T substitution at nucleotide position 856, causing the glycine (G) at amino acid position 286 to be replaced by a cysteine (C). 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