11-64117387-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013280.5(FLRT1):c.1120G>A(p.Glu374Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000806 in 1,612,198 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E374D) has been classified as Likely benign.
Frequency
Consequence
NM_013280.5 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 |
---|---|---|---|---|---|---|---|
FLRT1 | NM_013280.5 | c.1120G>A | p.Glu374Lys | missense_variant | 3/3 | ENST00000682287.1 | |
MACROD1 | NM_014067.4 | c.517+33852C>T | intron_variant | ENST00000255681.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLRT1 | ENST00000682287.1 | c.1120G>A | p.Glu374Lys | missense_variant | 3/3 | NM_013280.5 | P1 | ||
MACROD1 | ENST00000255681.7 | c.517+33852C>T | intron_variant | 1 | NM_014067.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152262Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000799 AC: 2AN: 250404Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135400
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1459818Hom.: 0 Cov.: 90 AF XY: 0.00000964 AC XY: 7AN XY: 725830
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152380Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74522
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at