rs7716253
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_001177693.2(ARHGEF28):c.945T>A(p.Ala315=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A315A) has been classified as Benign.
Frequency
Consequence
NM_001177693.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARHGEF28 | NM_001177693.2 | c.945T>A | p.Ala315= | synonymous_variant | 8/36 | ENST00000513042.7 | |
ARHGEF28 | NM_001080479.3 | c.945T>A | p.Ala315= | synonymous_variant | 8/37 | ||
ARHGEF28 | NM_001388078.1 | c.945T>A | p.Ala315= | synonymous_variant | 8/35 | ||
ARHGEF28 | NM_001388076.1 | c.651T>A | p.Ala217= | synonymous_variant | 7/35 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARHGEF28 | ENST00000513042.7 | c.945T>A | p.Ala315= | synonymous_variant | 8/36 | 5 | NM_001177693.2 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 151772Hom.: 0 Cov.: 30 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1450018Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 720228
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 151772Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74078
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.