X-153943898-C-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002910.6(RENBP):c.286G>T(p.Ala96Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000079 in 1,177,628 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 39 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002910.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000310 AC: 35AN: 113023Hom.: 0 Cov.: 24 AF XY: 0.000540 AC XY: 19AN XY: 35157
GnomAD3 exomes AF: 0.000180 AC: 23AN: 127472Hom.: 0 AF XY: 0.000167 AC XY: 7AN XY: 41828
GnomAD4 exome AF: 0.0000545 AC: 58AN: 1064605Hom.: 0 Cov.: 32 AF XY: 0.0000576 AC XY: 20AN XY: 347167
GnomAD4 genome AF: 0.000310 AC: 35AN: 113023Hom.: 0 Cov.: 24 AF XY: 0.000540 AC XY: 19AN XY: 35157
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.286G>T (p.A96S) alteration is located in exon 4 (coding exon 4) of the RENBP gene. This alteration results from a G to T substitution at nucleotide position 286, causing the alanine (A) at amino acid position 96 to be replaced by a serine (S). 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