rs1382076574
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_ModerateBP6_Moderate
The ENST00000369850.10(FLNA):c.5275C>T(p.Pro1759Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P1759A) has been classified as Likely benign.
Frequency
Consequence
ENST00000369850.10 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLNA | NM_001110556.2 | c.5275C>T | p.Pro1759Ser | missense_variant | 32/48 | ENST00000369850.10 | NP_001104026.1 | |
FLNA | NM_001456.4 | c.5251C>T | p.Pro1751Ser | missense_variant | 31/47 | NP_001447.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FLNA | ENST00000369850.10 | c.5275C>T | p.Pro1759Ser | missense_variant | 32/48 | 1 | NM_001110556.2 | ENSP00000358866 |
Frequencies
GnomAD3 genomes Cov.: 26
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 26
ClinVar
Submissions by phenotype
Connective tissue disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Center for Human Genetics, Inc, Center for Human Genetics, Inc | Nov 01, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at