chr11-124886501-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_019055.6(ROBO4):c.2757C>G(p.Phe919Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,614,164 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019055.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ROBO4 | NM_019055.6 | c.2757C>G | p.Phe919Leu | missense_variant | 16/18 | ENST00000306534.8 | |
ROBO4 | NM_001301088.2 | c.2322C>G | p.Phe774Leu | missense_variant | 16/18 | ||
ROBO4 | XM_006718861.3 | c.2643C>G | p.Phe881Leu | missense_variant | 16/18 | ||
ROBO4 | XM_011542875.2 | c.1431C>G | p.Phe477Leu | missense_variant | 9/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ROBO4 | ENST00000306534.8 | c.2757C>G | p.Phe919Leu | missense_variant | 16/18 | 1 | NM_019055.6 | P1 | |
ENST00000524453.1 | n.674-1218G>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152230Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251190Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135810
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461816Hom.: 0 Cov.: 30 AF XY: 0.0000138 AC XY: 10AN XY: 727214
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152348Hom.: 0 Cov.: 33 AF XY: 0.0000671 AC XY: 5AN XY: 74496
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 03, 2023 | The c.2757C>G (p.F919L) alteration is located in exon 16 (coding exon 16) of the ROBO4 gene. This alteration results from a C to G substitution at nucleotide position 2757, causing the phenylalanine (F) at amino acid position 919 to be replaced by a leucine (L). 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