rs3080632
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_052905.4(FMNL2):c.1673_1674insA(p.Pro560SerfsTer21) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★). Variant results in nonsense mediated mRNA decay.
Frequency
Genomes: 𝑓 0.000021 ( 0 hom., cov: 0)
Exomes 𝑓: 0.000020 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
FMNL2
NM_052905.4 frameshift
NM_052905.4 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: -9.94
Genes affected
FMNL2 (HGNC:18267): (formin like 2) This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FMNL2 | NM_052905.4 | c.1673_1674insA | p.Pro560SerfsTer21 | frameshift_variant | 15/26 | ENST00000288670.14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FMNL2 | ENST00000288670.14 | c.1673_1674insA | p.Pro560SerfsTer21 | frameshift_variant | 15/26 | 1 | NM_052905.4 | P1 | |
FMNL2 | ENST00000475377.3 | c.1673_1674insA | p.Pro560SerfsTer21 | frameshift_variant | 15/28 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 4AN: 144010Hom.: 0 Cov.: 0 FAILED QC
GnomAD3 genomes
?
AF:
AC:
4
AN:
144010
Hom.:
Cov.:
0
FAILED QC
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000202 AC: 28AN: 1385090Hom.: 0 Cov.: 23 AF XY: 0.0000146 AC XY: 10AN XY: 683296
GnomAD4 exome
Data not reliable, filtered out with message: AS_VQSR
AF:
AC:
28
AN:
1385090
Hom.:
Cov.:
23
AF XY:
AC XY:
10
AN XY:
683296
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.0000208 AC: 3AN: 144106Hom.: 0 Cov.: 0 AF XY: 0.0000143 AC XY: 1AN XY: 69964
GnomAD4 genome
?
Data not reliable, filtered out with message: AS_VQSR
AF:
AC:
3
AN:
144106
Hom.:
Cov.:
0
AF XY:
AC XY:
1
AN XY:
69964
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genomic Research Center, Shahid Beheshti University of Medical Sciences | Aug 07, 2018 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at