19-18431662-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032627.5(SSBP4):c.451C>T(p.Arg151Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000921 in 1,552,188 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_032627.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152078Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000178 AC: 28AN: 157046Hom.: 0 AF XY: 0.000248 AC XY: 21AN XY: 84576
GnomAD4 exome AF: 0.0000986 AC: 138AN: 1400110Hom.: 0 Cov.: 33 AF XY: 0.000130 AC XY: 90AN XY: 690936
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152078Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74280
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.451C>T (p.R151C) alteration is located in exon 7 (coding exon 7) of the SSBP4 gene. This alteration results from a C to T substitution at nucleotide position 451, causing the arginine (R) at amino acid position 151 to be replaced by a cysteine (C). 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