6-549245-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000230449.9(EXOC2):c.2168G>A(p.Arg723His) variant causes a missense change. The variant allele was found at a frequency of 0.0000502 in 1,614,030 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R723C) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000230449.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EXOC2 | NM_018303.6 | c.2168G>A | p.Arg723His | missense_variant | 22/28 | ENST00000230449.9 | NP_060773.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EXOC2 | ENST00000230449.9 | c.2168G>A | p.Arg723His | missense_variant | 22/28 | 1 | NM_018303.6 | ENSP00000230449 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152166Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251452Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135906
GnomAD4 exome AF: 0.0000465 AC: 68AN: 1461864Hom.: 0 Cov.: 30 AF XY: 0.0000536 AC XY: 39AN XY: 727234
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152166Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 14, 2023 | The c.2168G>A (p.R723H) alteration is located in exon 22 (coding exon 21) of the EXOC2 gene. This alteration results from a G to A substitution at nucleotide position 2168, causing the arginine (R) at amino acid position 723 to be replaced by a histidine (H). 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