chr14-57231518-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006544.4(EXOC5):c.1136T>C(p.Ile379Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000343 in 1,456,640 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006544.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EXOC5 | NM_006544.4 | c.1136T>C | p.Ile379Thr | missense_variant | 11/18 | ENST00000621441.5 | |
EXOC5 | XM_005267272.4 | c.1250T>C | p.Ile417Thr | missense_variant | 11/18 | ||
EXOC5 | XM_047430882.1 | c.971T>C | p.Ile324Thr | missense_variant | 11/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EXOC5 | ENST00000621441.5 | c.1136T>C | p.Ile379Thr | missense_variant | 11/18 | 1 | NM_006544.4 | P1 | |
EXOC5 | ENST00000554011.5 | n.855T>C | non_coding_transcript_exon_variant | 1/8 | 1 | ||||
EXOC5 | ENST00000340918.11 | c.941T>C | p.Ile314Thr | missense_variant | 10/17 | 2 | |||
EXOC5 | ENST00000555148.5 | c.*970T>C | 3_prime_UTR_variant, NMD_transcript_variant | 11/18 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1456640Hom.: 0 Cov.: 30 AF XY: 0.00000276 AC XY: 2AN XY: 724462
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.1136T>C (p.I379T) alteration is located in exon 11 (coding exon 11) of the EXOC5 gene. This alteration results from a T to C substitution at nucleotide position 1136, causing the isoleucine (I) at amino acid position 379 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
Publications
No publications associated with this variant yet.