5-180603313-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_182925.5(FLT4):āc.3971G>Cā(p.Arg1324Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000959 in 1,613,776 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1324L) has been classified as Benign.
Frequency
Consequence
NM_182925.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000729 AC: 111AN: 152260Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000741 AC: 183AN: 246898Hom.: 0 AF XY: 0.000784 AC XY: 105AN XY: 133964
GnomAD4 exome AF: 0.000983 AC: 1437AN: 1461398Hom.: 5 Cov.: 32 AF XY: 0.00103 AC XY: 752AN XY: 726960
GnomAD4 genome AF: 0.000728 AC: 111AN: 152378Hom.: 0 Cov.: 33 AF XY: 0.000711 AC XY: 53AN XY: 74524
ClinVar
Submissions by phenotype
not provided Benign:3
FLT4: BP4, BS1 -
- -
- -
not specified Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at