rs782007408
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 1P and 20B. PP2BP4_StrongBP6_Very_StrongBS1BS2
The NM_001110556.2(FLNA):c.1030G>A(p.Val344Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000801 in 1,210,812 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 24 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. V344V) has been classified as Likely benign.
Frequency
Consequence
NM_001110556.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNA | NM_001110556.2 | c.1030G>A | p.Val344Ile | missense_variant | 7/48 | ENST00000369850.10 | |
FLNA | NM_001456.4 | c.1030G>A | p.Val344Ile | missense_variant | 7/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNA | ENST00000369850.10 | c.1030G>A | p.Val344Ile | missense_variant | 7/48 | 1 | NM_001110556.2 |
Frequencies
GnomAD3 genomes AF: 0.0000531 AC: 6AN: 112891Hom.: 0 Cov.: 25 AF XY: 0.000114 AC XY: 4AN XY: 35037
GnomAD3 exomes AF: 0.000352 AC: 64AN: 181599Hom.: 0 AF XY: 0.000177 AC XY: 12AN XY: 67629
GnomAD4 exome AF: 0.0000829 AC: 91AN: 1097921Hom.: 0 Cov.: 32 AF XY: 0.0000550 AC XY: 20AN XY: 363311
GnomAD4 genome AF: 0.0000531 AC: 6AN: 112891Hom.: 0 Cov.: 25 AF XY: 0.000114 AC XY: 4AN XY: 35037
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Mar 17, 2016 | - - |
Melnick-Needles syndrome;C0265293:Frontometaphyseal dysplasia;C1844696:Oto-palato-digital syndrome, type II;C1848213:Heterotopia, periventricular, X-linked dominant Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 11, 2023 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Apr 20, 2020 | - - |
FLNA-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 30, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at