14-85621911-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013231.6(FLRT2):āc.397T>Gā(p.Leu133Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000124 in 1,602,530 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_013231.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLRT2 | NM_013231.6 | c.397T>G | p.Leu133Val | missense_variant | 2/2 | ENST00000330753.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLRT2 | ENST00000330753.6 | c.397T>G | p.Leu133Val | missense_variant | 2/2 | 1 | NM_013231.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000104 AC: 25AN: 241470Hom.: 0 AF XY: 0.000115 AC XY: 15AN XY: 129930
GnomAD4 exome AF: 0.000125 AC: 182AN: 1450336Hom.: 0 Cov.: 37 AF XY: 0.000139 AC XY: 100AN XY: 720118
GnomAD4 genome AF: 0.000105 AC: 16AN: 152194Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 30, 2022 | The c.397T>G (p.L133V) alteration is located in exon 2 (coding exon 1) of the FLRT2 gene. This alteration results from a T to G substitution at nucleotide position 397, causing the leucine (L) at amino acid position 133 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at