chr14-57209775-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006544.4(EXOC5):c.1730T>G(p.Val577Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000206 in 1,454,774 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict 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
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EXOC5 | NM_006544.4 | c.1730T>G | p.Val577Gly | missense_variant | 17/18 | ENST00000621441.5 | |
EXOC5 | XM_005267272.4 | c.1844T>G | p.Val615Gly | missense_variant | 17/18 | ||
EXOC5 | XM_047430882.1 | c.1565T>G | p.Val522Gly | missense_variant | 17/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EXOC5 | ENST00000621441.5 | c.1730T>G | p.Val577Gly | missense_variant | 17/18 | 1 | NM_006544.4 | P1 | |
EXOC5 | ENST00000554011.5 | n.1449T>G | non_coding_transcript_exon_variant | 7/8 | 1 | ||||
EXOC5 | ENST00000340918.11 | c.1535T>G | p.Val512Gly | missense_variant | 16/17 | 2 | |||
EXOC5 | ENST00000555148.5 | c.*1564T>G | 3_prime_UTR_variant, NMD_transcript_variant | 17/18 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1454774Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 723376
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 21, 2022 | The c.1730T>G (p.V577G) alteration is located in exon 17 (coding exon 17) of the EXOC5 gene. This alteration results from a T to G substitution at nucleotide position 1730, causing the valine (V) at amino acid position 577 to be replaced by a glycine (G). 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.