6-41033103-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173561.3(UNC5CL):c.730C>T(p.Arg244Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,612,716 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_173561.3 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 |
---|---|---|---|---|---|---|---|
UNC5CL | NM_173561.3 | c.730C>T | p.Arg244Cys | missense_variant | 4/9 | ENST00000244565.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC5CL | ENST00000244565.8 | c.730C>T | p.Arg244Cys | missense_variant | 4/9 | 1 | NM_173561.3 | P1 | |
UNC5CL | ENST00000373164.1 | c.730C>T | p.Arg244Cys | missense_variant | 3/8 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152252Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000244 AC: 6AN: 246008Hom.: 0 AF XY: 0.0000375 AC XY: 5AN XY: 133410
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1460346Hom.: 0 Cov.: 32 AF XY: 0.0000179 AC XY: 13AN XY: 726384
GnomAD4 genome ? AF: 0.0000656 AC: 10AN: 152370Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 12, 2021 | The c.730C>T (p.R244C) alteration is located in exon 4 (coding exon 3) of the UNC5CL gene. This alteration results from a C to T substitution at nucleotide position 730, causing the arginine (R) at amino acid position 244 to be replaced by a cysteine (C). 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