13-21671795-T-TC
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Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2
The NM_002010.3(FGF9):c.-118_-117insC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00178 in 1,171,638 control chromosomes in the GnomAD database, including 5 homozygotes. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0044 ( 3 hom., cov: 33)
Exomes 𝑓: 0.0014 ( 2 hom. )
Consequence
FGF9
NM_002010.3 5_prime_UTR
NM_002010.3 5_prime_UTR
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.142
Genes affected
FGF9 (HGNC:3687): (fibroblast growth factor 9) 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. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -6 ACMG points.
BP6
Variant 13-21671795-T-TC is Benign according to our data. Variant chr13-21671795-T-TC is described in ClinVar as [Likely_benign]. Clinvar id is 311417.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
High AC in GnomAd4 at 672 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FGF9 | NM_002010.3 | c.-118_-117insC | 5_prime_UTR_variant | 1/3 | ENST00000382353.6 | NP_002001.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FGF9 | ENST00000382353.6 | c.-118_-117insC | 5_prime_UTR_variant | 1/3 | 1 | NM_002010.3 | ENSP00000371790 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00439 AC: 666AN: 151842Hom.: 3 Cov.: 33
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GnomAD4 exome AF: 0.00139 AC: 1416AN: 1019678Hom.: 2 Cov.: 13 AF XY: 0.00137 AC XY: 716AN XY: 522130
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GnomAD4 genome AF: 0.00442 AC: 672AN: 151960Hom.: 3 Cov.: 33 AF XY: 0.00425 AC XY: 316AN XY: 74282
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Symphalangism-brachydactyly syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at