NM_004703.6:c.2309A>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004703.6(RABEP1):c.2309A>T(p.Glu770Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000515 in 1,574,114 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 (★).
Frequency
Consequence
NM_004703.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000183 AC: 35AN: 190988Hom.: 0 AF XY: 0.000177 AC XY: 18AN XY: 101606
GnomAD4 exome AF: 0.0000387 AC: 55AN: 1421910Hom.: 0 Cov.: 31 AF XY: 0.0000384 AC XY: 27AN XY: 703400
GnomAD4 genome AF: 0.000171 AC: 26AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.000269 AC XY: 20AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2309A>T (p.E770V) alteration is located in exon 16 (coding exon 16) of the RABEP1 gene. This alteration results from a A to T substitution at nucleotide position 2309, causing the glutamic acid (E) at amino acid position 770 to be replaced by a valine (V). 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