chr2-152735075-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_152522.7(ARL6IP6):c.536C>T(p.Ser179Phe) variant causes a missense change. The variant allele was found at a frequency of 0.0000328 in 1,613,492 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152522.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251404Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135882
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461360Hom.: 0 Cov.: 31 AF XY: 0.0000468 AC XY: 34AN XY: 727024
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.536C>T (p.S179F) alteration is located in exon 3 (coding exon 3) of the ARL6IP6 gene. This alteration results from a C to T substitution at nucleotide position 536, causing the serine (S) at amino acid position 179 to be replaced by a phenylalanine (F). 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