5-169864317-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001129891.3(INSYN2B):c.1564C>T(p.Arg522Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000696 in 1,551,450 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_001129891.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INSYN2B | ENST00000377365.4 | c.1564C>T | p.Arg522Trp | missense_variant | Exon 4 of 4 | 2 | NM_001129891.3 | ENSP00000366582.3 | ||
DOCK2 | ENST00000520908.7 | c.2799+23465G>A | intron_variant | Intron 27 of 51 | 2 | NM_004946.3 | ENSP00000429283.3 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152094Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000321 AC: 5AN: 155782Hom.: 0 AF XY: 0.0000121 AC XY: 1AN XY: 82542
GnomAD4 exome AF: 0.0000722 AC: 101AN: 1399356Hom.: 0 Cov.: 32 AF XY: 0.0000710 AC XY: 49AN XY: 690190
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152094Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74290
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1564C>T (p.R522W) alteration is located in exon 4 (coding exon 3) of the FAM196B gene. This alteration results from a C to T substitution at nucleotide position 1564, causing the arginine (R) at amino acid position 522 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