rs3135885
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000142.5(FGFR3):c.1075+5C>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00819 in 1,613,132 control chromosomes in the GnomAD database, including 163 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000142.5 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0163 AC: 2484AN: 152222Hom.: 35 Cov.: 34
GnomAD3 exomes AF: 0.0108 AC: 2713AN: 250498Hom.: 45 AF XY: 0.0110 AC XY: 1496AN XY: 135732
GnomAD4 exome AF: 0.00735 AC: 10731AN: 1460792Hom.: 129 Cov.: 33 AF XY: 0.00773 AC XY: 5615AN XY: 726736
GnomAD4 genome AF: 0.0163 AC: 2488AN: 152340Hom.: 34 Cov.: 34 AF XY: 0.0161 AC XY: 1196AN XY: 74488
ClinVar
Submissions by phenotype
not specified Benign:5
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
- -
- -
- -
- -
not provided Benign:5
- -
- -
- -
- -
- -
Connective tissue disorder Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at