5-180603376-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.3908G>Cā(p.Gly1303Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00302 in 1,613,944 control chromosomes in the GnomAD database, including 22 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
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: 0.00257 AC: 392AN: 152236Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00323 AC: 801AN: 247888Hom.: 4 AF XY: 0.00364 AC XY: 489AN XY: 134328
GnomAD4 exome AF: 0.00306 AC: 4473AN: 1461590Hom.: 21 Cov.: 32 AF XY: 0.00330 AC XY: 2400AN XY: 727066
GnomAD4 genome AF: 0.00259 AC: 394AN: 152354Hom.: 1 Cov.: 33 AF XY: 0.00274 AC XY: 204AN XY: 74490
ClinVar
Submissions by phenotype
not provided Benign:3
FLT4: BP4, BS1, BS2 -
- -
- -
not specified Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at