NM_001110556.2:c.2178C>T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_001110556.2(FLNA):c.2178C>T(p.Asn726Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000769 in 1,209,305 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 26 hemizygotes 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).
Frequency
Consequence
NM_001110556.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLNA | NM_001110556.2 | c.2178C>T | p.Asn726Asn | synonymous_variant | Exon 15 of 48 | ENST00000369850.10 | NP_001104026.1 | |
FLNA | NM_001456.4 | c.2178C>T | p.Asn726Asn | synonymous_variant | Exon 15 of 47 | NP_001447.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000259 AC: 29AN: 112007Hom.: 0 Cov.: 23 AF XY: 0.000205 AC XY: 7AN XY: 34179
GnomAD3 exomes AF: 0.0000826 AC: 15AN: 181701Hom.: 0 AF XY: 0.0000296 AC XY: 2AN XY: 67653
GnomAD4 exome AF: 0.0000583 AC: 64AN: 1097298Hom.: 0 Cov.: 32 AF XY: 0.0000524 AC XY: 19AN XY: 362922
GnomAD4 genome AF: 0.000259 AC: 29AN: 112007Hom.: 0 Cov.: 23 AF XY: 0.000205 AC XY: 7AN XY: 34179
ClinVar
Submissions by phenotype
not provided Uncertain:2Benign:1
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FLNA: BP4, BP7, BS2 -
not specified Benign:2
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at