17-5373408-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004703.6(RABEP1):āc.1979T>Gā(p.Val660Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000237 in 1,613,000 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 (ā ).
Frequency
Consequence
NM_004703.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000106 AC: 16AN: 151472Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.0000844 AC: 21AN: 248878Hom.: 0 AF XY: 0.0000889 AC XY: 12AN XY: 135040
GnomAD4 exome AF: 0.000251 AC: 367AN: 1461528Hom.: 0 Cov.: 31 AF XY: 0.000235 AC XY: 171AN XY: 727058
GnomAD4 genome AF: 0.000106 AC: 16AN: 151472Hom.: 0 Cov.: 29 AF XY: 0.0000947 AC XY: 7AN XY: 73910
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1979T>G (p.V660G) alteration is located in exon 13 (coding exon 13) of the RABEP1 gene. This alteration results from a T to G substitution at nucleotide position 1979, causing the valine (V) at amino acid position 660 to be replaced by a glycine (G). 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