rs781842762
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_001110556.2(FLNA):āc.2706T>Cā(p.Ala902=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000661 in 1,209,841 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 4 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001110556.2 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNA | NM_001110556.2 | c.2706T>C | p.Ala902= | synonymous_variant | 19/48 | ENST00000369850.10 | |
FLNA | NM_001456.4 | c.2706T>C | p.Ala902= | synonymous_variant | 19/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNA | ENST00000369850.10 | c.2706T>C | p.Ala902= | synonymous_variant | 19/48 | 1 | NM_001110556.2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000894 AC: 1AN: 111854Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34032
GnomAD3 exomes AF: 0.0000165 AC: 3AN: 181620Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67572
GnomAD4 exome AF: 0.00000638 AC: 7AN: 1097987Hom.: 0 Cov.: 32 AF XY: 0.0000110 AC XY: 4AN XY: 363401
GnomAD4 genome ? AF: 0.00000894 AC: 1AN: 111854Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34032
ClinVar
Submissions by phenotype
Familial thoracic aortic aneurysm and aortic dissection Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | May 18, 2023 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
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 | Dec 20, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at