11-124895272-C-A
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_019055.6(ROBO4):c.1037-79G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000016 in 1,248,380 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_019055.6 intron
Scores
Clinical Significance
Conservation
Publications
- aortic valve disease 3Inheritance: AD Classification: STRONG, LIMITED Submitted by: G2P, Labcorp Genetics (formerly Invitae), PanelApp Australia
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ROBO4 | NM_019055.6 | c.1037-79G>T | intron_variant | Intron 6 of 17 | ENST00000306534.8 | NP_061928.4 | ||
ROBO4 | NM_001441183.1 | c.1037-79G>T | intron_variant | Intron 6 of 17 | NP_001428112.1 | |||
ROBO4 | NM_001301088.2 | c.602-79G>T | intron_variant | Intron 6 of 17 | NP_001288017.1 | |||
LOC107984406 | XR_001748429.3 | n.334+3140C>A | intron_variant | Intron 1 of 1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151904Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 exome AF: 9.12e-7 AC: 1AN: 1096476Hom.: 0 Cov.: 14 AF XY: 0.00000179 AC XY: 1AN XY: 557576 show subpopulations
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151904Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74192 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at