chr4-95182959-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003728.4(UNC5C):c.2389C>T(p.Leu797Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,704 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_003728.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNC5C | NM_003728.4 | c.2389C>T | p.Leu797Phe | missense_variant | 14/16 | ENST00000453304.6 | |
UNC5C | XM_005263321.4 | c.2446C>T | p.Leu816Phe | missense_variant | 15/17 | ||
UNC5C | XM_047416345.1 | c.1345C>T | p.Leu449Phe | missense_variant | 16/18 | ||
UNC5C | XM_047416346.1 | c.1345C>T | p.Leu449Phe | missense_variant | 17/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC5C | ENST00000453304.6 | c.2389C>T | p.Leu797Phe | missense_variant | 14/16 | 1 | NM_003728.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461704Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727142
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 10, 2022 | The c.2389C>T (p.L797F) alteration is located in exon 14 (coding exon 14) of the UNC5C gene. This alteration results from a C to T substitution at nucleotide position 2389, causing the leucine (L) at amino acid position 797 to be replaced by a phenylalanine (F). 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.