1-98685065-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015976.5(SNX7):āc.361A>Gā(p.Lys121Glu) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.0000701 in 1,468,746 control chromosomes in the GnomAD database, with no homozygous occurrence. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_015976.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000309 AC: 6AN: 194282Hom.: 0 AF XY: 0.0000283 AC XY: 3AN XY: 105936
GnomAD4 exome AF: 0.0000737 AC: 97AN: 1316552Hom.: 0 Cov.: 26 AF XY: 0.0000543 AC XY: 35AN XY: 644208
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152194Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.361A>G (p.K121E) alteration is located in exon 2 (coding exon 2) of the SNX7 gene. This alteration results from a A to G substitution at nucleotide position 361, causing the lysine (K) at amino acid position 121 to be replaced by a glutamic acid (E). 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