4-7772954-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001134647.2(AFAP1):c.2119C>T(p.Arg707Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00056 in 1,613,362 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_001134647.2 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: 0.000381 AC: 58AN: 152138Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000393 AC: 98AN: 249470Hom.: 0 AF XY: 0.000459 AC XY: 62AN XY: 135030
GnomAD4 exome AF: 0.000579 AC: 846AN: 1461106Hom.: 0 Cov.: 31 AF XY: 0.000582 AC XY: 423AN XY: 726926
GnomAD4 genome AF: 0.000381 AC: 58AN: 152256Hom.: 0 Cov.: 33 AF XY: 0.000390 AC XY: 29AN XY: 74440
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2119C>T (p.R707W) alteration is located in exon 16 (coding exon 15) of the AFAP1 gene. This alteration results from a C to T substitution at nucleotide position 2119, causing the arginine (R) at amino acid position 707 to be replaced by a tryptophan (W). 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