NM_018303.6:c.2431G>A
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018303.6(EXOC2):c.2431G>A(p.Ala811Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000108 in 1,613,132 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018303.6 missense
Scores
Clinical Significance
Conservation
Publications
- complex neurodevelopmental disorderInheritance: AR Classification: LIMITED Submitted by: ClinGen
- neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasiaInheritance: Unknown Classification: LIMITED Submitted by: Labcorp Genetics (formerly Invitae)
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EXOC2 | NM_018303.6 | c.2431G>A | p.Ala811Thr | missense_variant | Exon 24 of 28 | ENST00000230449.9 | NP_060773.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000164 AC: 25AN: 152074Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.000235 AC: 59AN: 251214 AF XY: 0.000184 show subpopulations
GnomAD4 exome AF: 0.000102 AC: 149AN: 1461058Hom.: 1 Cov.: 30 AF XY: 0.0000991 AC XY: 72AN XY: 726872 show subpopulations
GnomAD4 genome AF: 0.000164 AC: 25AN: 152074Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74276 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2431G>A (p.A811T) alteration is located in exon 24 (coding exon 23) of the EXOC2 gene. This alteration results from a G to A substitution at nucleotide position 2431, causing the alanine (A) at amino acid position 811 to be replaced by a threonine (T). 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