X-154351620-C-T
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_001110556.2(FLNA):c.6984G>A(p.Pro2328Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000019 in 1,207,651 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 10 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. P2328P) has been classified as Likely benign.
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLNA | NM_001110556.2 | c.6984G>A | p.Pro2328Pro | synonymous_variant | Exon 43 of 48 | ENST00000369850.10 | NP_001104026.1 | |
FLNA | NM_001456.4 | c.6960G>A | p.Pro2320Pro | synonymous_variant | Exon 42 of 47 | NP_001447.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000978 AC: 11AN: 112479Hom.: 0 Cov.: 25 AF XY: 0.0000866 AC XY: 3AN XY: 34641
GnomAD3 exomes AF: 0.0000111 AC: 2AN: 180369Hom.: 0 AF XY: 0.0000149 AC XY: 1AN XY: 67221
GnomAD4 exome AF: 0.0000110 AC: 12AN: 1095172Hom.: 0 Cov.: 30 AF XY: 0.0000194 AC XY: 7AN XY: 361062
GnomAD4 genome AF: 0.0000978 AC: 11AN: 112479Hom.: 0 Cov.: 25 AF XY: 0.0000866 AC XY: 3AN XY: 34641
ClinVar
Submissions by phenotype
Familial thoracic aortic aneurysm and aortic dissection Benign:1
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
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at