chr4-1806919-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 2P and 16B. PM2BP4_StrongBP6_Very_StrongBS1
The NM_001354810.2(FGFR3):c.2191C>T(p.Arg731Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000111 in 1,609,292 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R731P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001354810.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152104Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000717 AC: 17AN: 237200Hom.: 0 AF XY: 0.0000464 AC XY: 6AN XY: 129382
GnomAD4 exome AF: 0.000107 AC: 156AN: 1457070Hom.: 0 Cov.: 36 AF XY: 0.0000952 AC XY: 69AN XY: 724566
GnomAD4 genome AF: 0.000151 AC: 23AN: 152222Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74420
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at