chr14-103102691-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001077594.2(EXOC3L4):c.968G>A(p.Arg323His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000821 in 1,474,260 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001077594.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EXOC3L4 | NM_001077594.2 | c.968G>A | p.Arg323His | missense_variant | 3/12 | ENST00000688303.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EXOC3L4 | ENST00000688303.1 | c.968G>A | p.Arg323His | missense_variant | 3/12 | NM_001077594.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000604 AC: 92AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000331 AC: 28AN: 84502Hom.: 0 AF XY: 0.000371 AC XY: 18AN XY: 48482
GnomAD4 exome AF: 0.000846 AC: 1118AN: 1321908Hom.: 0 Cov.: 34 AF XY: 0.000871 AC XY: 567AN XY: 650984
GnomAD4 genome ? AF: 0.000604 AC: 92AN: 152352Hom.: 0 Cov.: 33 AF XY: 0.000483 AC XY: 36AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 16, 2023 | The c.968G>A (p.R323H) alteration is located in exon 2 (coding exon 2) of the EXOC3L4 gene. This alteration results from a G to A substitution at nucleotide position 968, causing the arginine (R) at amino acid position 323 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