rs781946802
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_001110556.2(FLNA):c.6047C>T(p.Thr2016Met) variant causes a missense change. The variant allele was found at a frequency of 0.00000455 in 1,097,716 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. T2016T) has been classified as Likely benign.
Frequency
Consequence
NM_001110556.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNA | NM_001110556.2 | c.6047C>T | p.Thr2016Met | missense_variant | 38/48 | ENST00000369850.10 | |
FLNA | NM_001456.4 | c.6023C>T | p.Thr2008Met | missense_variant | 37/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNA | ENST00000369850.10 | c.6047C>T | p.Thr2016Met | missense_variant | 38/48 | 1 | NM_001110556.2 |
Frequencies
GnomAD3 genomes ? Cov.: 26
GnomAD3 exomes AF: 0.00000551 AC: 1AN: 181525Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67557
GnomAD4 exome AF: 0.00000455 AC: 5AN: 1097716Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 363288
GnomAD4 genome ? Cov.: 26
ClinVar
Submissions by phenotype
not provided Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Mar 25, 2016 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Nov 03, 2022 | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge - |
Familial thoracic aortic aneurysm and aortic dissection Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 23, 2023 | The c.6023C>T (p.T2008M) alteration is located in exon 37 (coding exon 36) of the FLNA gene. This alteration results from a C to T substitution at nucleotide position 6023, causing the threonine (T) at amino acid position 2008 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Melnick-Needles syndrome;C0265293:Frontometaphyseal dysplasia;C1844696:Oto-palato-digital syndrome, type II;C1848213:Heterotopia, periventricular, X-linked dominant Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 04, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at