chr14-103102277-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001077594.2(EXOC3L4):āc.554T>Cā(p.Leu185Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000014 in 1,428,674 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L185H) has been classified as Likely benign.
Frequency
Consequence
NM_001077594.2 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 | UniProt |
---|---|---|---|---|---|---|---|
EXOC3L4 | NM_001077594.2 | c.554T>C | p.Leu185Pro | missense_variant | 3/12 | ENST00000688303.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EXOC3L4 | ENST00000688303.1 | c.554T>C | p.Leu185Pro | missense_variant | 3/12 | NM_001077594.2 | P1 | ||
EXOC3L4 | ENST00000380069.7 | c.554T>C | p.Leu185Pro | missense_variant | 2/11 | 1 | P1 | ||
EXOC3L4 | ENST00000687959.1 | c.554T>C | p.Leu185Pro | missense_variant | 4/13 | P1 | |||
EXOC3L4 | ENST00000559116.1 | c.286+1664T>C | intron_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1428674Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 708660
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at