rs782541746
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_001110556.2(FLNA):āc.7167T>Gā(p.Ala2389Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000256 in 1,210,391 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 5 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
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLNA | NM_001110556.2 | c.7167T>G | p.Ala2389Ala | synonymous_variant | 45/48 | ENST00000369850.10 | NP_001104026.1 | |
FLNA | NM_001456.4 | c.7143T>G | p.Ala2381Ala | synonymous_variant | 44/47 | NP_001447.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FLNA | ENST00000369850.10 | c.7167T>G | p.Ala2389Ala | synonymous_variant | 45/48 | 1 | NM_001110556.2 | ENSP00000358866.3 |
Frequencies
GnomAD3 genomes AF: 0.00000887 AC: 1AN: 112769Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 34925
GnomAD3 exomes AF: 0.0000441 AC: 8AN: 181581Hom.: 0 AF XY: 0.0000297 AC XY: 2AN XY: 67453
GnomAD4 exome AF: 0.0000273 AC: 30AN: 1097622Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 5AN XY: 363086
GnomAD4 genome AF: 0.00000887 AC: 1AN: 112769Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 34925
ClinVar
Submissions by phenotype
Familial thoracic aortic aneurysm and aortic dissection Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 01, 2024 | 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
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 27, 2023 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 25, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at