chr17-31391883-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032932.6(RAB11FIP4):c.31C>T(p.Pro11Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000025 in 1,200,344 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_032932.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000134 AC: 2AN: 148862Hom.: 0 Cov.: 30
GnomAD4 exome AF: 9.51e-7 AC: 1AN: 1051482Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 501200
GnomAD4 genome AF: 0.0000134 AC: 2AN: 148862Hom.: 0 Cov.: 30 AF XY: 0.0000276 AC XY: 2AN XY: 72542
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.31C>T (p.P11S) alteration is located in exon 1 (coding exon 1) of the RAB11FIP4 gene. This alteration results from a C to T substitution at nucleotide position 31, causing the proline (P) at amino acid position 11 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