ENST00000615840.5:c.*3245A>T
Variant summary
Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The ENST00000615840.5(FLT1):c.*3245A>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.513 in 1,041,944 control chromosomes in the GnomAD database, including 140,888 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000615840.5 3_prime_UTR
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -10 ACMG points.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| FLT1 | NM_002019.4 | c.1970-1425A>T | intron_variant | Intron 13 of 29 | ENST00000282397.9 | NP_002010.2 | ||
| FLT1 | NM_001159920.2 | c.*3245A>T | 3_prime_UTR_variant | Exon 13 of 13 | NP_001153392.1 | |||
| FLT1 | NM_001160030.2 | c.1970-1425A>T | intron_variant | Intron 13 of 14 | NP_001153502.1 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| FLT1 | ENST00000615840.5 | c.*3245A>T | 3_prime_UTR_variant | Exon 13 of 13 | 1 | ENSP00000484039.1 | ||||
| FLT1 | ENST00000282397.9 | c.1970-1425A>T | intron_variant | Intron 13 of 29 | 1 | NM_002019.4 | ENSP00000282397.4 | |||
| FLT1 | ENST00000541932.5 | c.1970-1425A>T | intron_variant | Intron 13 of 14 | 1 | ENSP00000437631.1 | ||||
| FLT1 | ENST00000639477.1 | c.*3148A>T | 3_prime_UTR_variant | Exon 14 of 14 | 5 | ENSP00000491097.1 |
Frequencies
GnomAD3 genomes AF: 0.433 AC: 65715AN: 151916Hom.: 15678 Cov.: 32 show subpopulations
GnomAD4 exome AF: 0.527 AC: 469019AN: 889910Hom.: 125204 Cov.: 25 AF XY: 0.529 AC XY: 217572AN XY: 411246 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.432 AC: 65739AN: 152034Hom.: 15684 Cov.: 32 AF XY: 0.432 AC XY: 32091AN XY: 74318 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at