chr11-65884579-G-A
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_004214.5(FIBP):c.897C>T(p.Leu299Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000621 in 1,614,174 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004214.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00273 AC: 415AN: 152180Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000815 AC: 205AN: 251454Hom.: 1 AF XY: 0.000625 AC XY: 85AN XY: 135918
GnomAD4 exome AF: 0.000401 AC: 586AN: 1461876Hom.: 3 Cov.: 34 AF XY: 0.000364 AC XY: 265AN XY: 727240
GnomAD4 genome AF: 0.00273 AC: 416AN: 152298Hom.: 2 Cov.: 32 AF XY: 0.00287 AC XY: 214AN XY: 74470
ClinVar
Submissions by phenotype
not provided Benign:3
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FIBP: BP4, BP7 -
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FIBP-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at