rs201093148
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 1P and 20B. PP2BP4_StrongBP6_Very_StrongBS1BS2
The NM_001110556.2(FLNA):c.1813G>A(p.Asp605Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000251 in 1,209,926 control chromosomes in the GnomAD database, including 1 homozygotes. There are 112 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. D605D) has been classified as Likely benign.
Frequency
Consequence
NM_001110556.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNA | NM_001110556.2 | c.1813G>A | p.Asp605Asn | missense_variant | 12/48 | ENST00000369850.10 | |
FLNA | NM_001456.4 | c.1813G>A | p.Asp605Asn | missense_variant | 12/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNA | ENST00000369850.10 | c.1813G>A | p.Asp605Asn | missense_variant | 12/48 | 1 | NM_001110556.2 |
Frequencies
GnomAD3 genomes ? AF: 0.00125 AC: 140AN: 112089Hom.: 0 Cov.: 24 AF XY: 0.00190 AC XY: 65AN XY: 34253
GnomAD3 exomes AF: 0.000661 AC: 120AN: 181568Hom.: 1 AF XY: 0.000563 AC XY: 38AN XY: 67510
GnomAD4 exome AF: 0.000149 AC: 164AN: 1097783Hom.: 1 Cov.: 33 AF XY: 0.000129 AC XY: 47AN XY: 363377
GnomAD4 genome ? AF: 0.00125 AC: 140AN: 112143Hom.: 0 Cov.: 24 AF XY: 0.00189 AC XY: 65AN XY: 34317
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jun 20, 2017 | - - |
Likely benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Aug 12, 2018 | - - |
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | May 04, 2017 | - - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 03, 2021 | - - |
Familial thoracic aortic aneurysm and aortic dissection Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 20, 2018 | 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 | Jan 25, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at