chr2-152611598-A-G
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 1P and 14B. PP2BP4_StrongBP6_ModerateBS1BS2
The NM_052905.4(FMNL2):āc.1055A>Gā(p.Tyr352Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00154 in 1,586,146 control chromosomes in the GnomAD database, including 39 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_052905.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FMNL2 | NM_052905.4 | c.1055A>G | p.Tyr352Cys | missense_variant | 11/26 | ENST00000288670.14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FMNL2 | ENST00000288670.14 | c.1055A>G | p.Tyr352Cys | missense_variant | 11/26 | 1 | NM_052905.4 | P1 | |
FMNL2 | ENST00000475377.3 | c.1055A>G | p.Tyr352Cys | missense_variant | 11/28 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00837 AC: 1274AN: 152210Hom.: 18 Cov.: 33
GnomAD3 exomes AF: 0.00214 AC: 482AN: 224958Hom.: 7 AF XY: 0.00163 AC XY: 197AN XY: 120946
GnomAD4 exome AF: 0.000808 AC: 1158AN: 1433818Hom.: 21 Cov.: 26 AF XY: 0.000690 AC XY: 492AN XY: 712530
GnomAD4 genome AF: 0.00840 AC: 1280AN: 152328Hom.: 18 Cov.: 33 AF XY: 0.00801 AC XY: 597AN XY: 74498
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 19, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at