rs146590295
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP7BS2
The NM_004112.4(FGF11):c.505C>A(p.Arg169Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000285 in 1,614,158 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00014 ( 0 hom., cov: 32)
Exomes 𝑓: 0.000017 ( 0 hom. )
Consequence
FGF11
NM_004112.4 synonymous
NM_004112.4 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.698
Genes affected
FGF11 (HGNC:3667): (fibroblast growth factor 11) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -7 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.22).
BP7
Synonymous conserved (PhyloP=0.698 with no splicing effect.
BS2
High AC in GnomAd4 at 21 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FGF11 | NM_004112.4 | c.505C>A | p.Arg169Arg | synonymous_variant | Exon 4 of 5 | ENST00000293829.9 | NP_004103.1 | |
FGF11 | NM_001303460.2 | c.328C>A | p.Arg110Arg | synonymous_variant | Exon 4 of 5 | NP_001290389.1 | ||
FGF11 | NR_130156.2 | n.545C>A | non_coding_transcript_exon_variant | Exon 4 of 5 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152164Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251488Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135918
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GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461876Hom.: 0 Cov.: 34 AF XY: 0.0000124 AC XY: 9AN XY: 727236
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GnomAD4 genome AF: 0.000138 AC: 21AN: 152282Hom.: 0 Cov.: 32 AF XY: 0.000201 AC XY: 15AN XY: 74460
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at