chr4-95169323-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003728.4(UNC5C):c.2707G>A(p.Asp903Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000595 in 1,614,114 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 (★). Synonymous variant affecting the same amino acid position (i.e. D903D) has been classified as Benign.
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.2707G>A | p.Asp903Asn | missense_variant | 16/16 | ENST00000453304.6 | |
UNC5C | XM_005263321.4 | c.2764G>A | p.Asp922Asn | missense_variant | 17/17 | ||
UNC5C | XM_047416345.1 | c.1663G>A | p.Asp555Asn | missense_variant | 18/18 | ||
UNC5C | XM_047416346.1 | c.1663G>A | p.Asp555Asn | missense_variant | 19/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC5C | ENST00000453304.6 | c.2707G>A | p.Asp903Asn | missense_variant | 16/16 | 1 | NM_003728.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000854 AC: 13AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249960Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135242
GnomAD4 exome AF: 0.0000568 AC: 83AN: 1461892Hom.: 0 Cov.: 30 AF XY: 0.0000481 AC XY: 35AN XY: 727248
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 27, 2022 | The c.2707G>A (p.D903N) alteration is located in exon 16 (coding exon 16) of the UNC5C gene. This alteration results from a G to A substitution at nucleotide position 2707, causing the aspartic acid (D) at amino acid position 903 to be replaced by an asparagine (N). 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