9-41127543-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001085476.4(FOXD4L6):c.841G>T(p.Ala281Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 6/9 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001085476.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 132310Hom.: 0 Cov.: 20 FAILED QC
GnomAD3 exomes AF: 0.0000602 AC: 3AN: 49840Hom.: 0 AF XY: 0.0000790 AC XY: 2AN XY: 25312
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000335 AC: 48AN: 1434746Hom.: 0 Cov.: 30 AF XY: 0.0000518 AC XY: 37AN XY: 714484
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000756 AC: 1AN: 132310Hom.: 0 Cov.: 20 AF XY: 0.0000156 AC XY: 1AN XY: 63938
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.841G>T (p.A281S) alteration is located in exon 1 (coding exon 1) of the FOXD4L6 gene. This alteration results from a G to T substitution at nucleotide position 841, causing the alanine (A) at amino acid position 281 to be replaced by a serine (S). 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