rs35648279
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_006070.6(TFG):c.552G>A(p.Ala184=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00946 in 1,611,108 control chromosomes in the GnomAD database, including 389 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. A184A) has been classified as Likely benign.
Frequency
Consequence
NM_006070.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TFG | NM_006070.6 | c.552G>A | p.Ala184= | synonymous_variant | 5/8 | ENST00000240851.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TFG | ENST00000240851.9 | c.552G>A | p.Ala184= | synonymous_variant | 5/8 | 1 | NM_006070.6 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0298 AC: 4537AN: 152126Hom.: 183 Cov.: 32
GnomAD3 exomes AF: 0.0112 AC: 2789AN: 248312Hom.: 95 AF XY: 0.00936 AC XY: 1257AN XY: 134328
GnomAD4 exome AF: 0.00733 AC: 10690AN: 1458864Hom.: 205 Cov.: 30 AF XY: 0.00690 AC XY: 5005AN XY: 725770
GnomAD4 genome ? AF: 0.0299 AC: 4548AN: 152244Hom.: 184 Cov.: 32 AF XY: 0.0288 AC XY: 2145AN XY: 74438
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Apr 17, 2015 | 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. - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Oct 30, 2023 | - - |
Hereditary motor and sensory neuropathy, Okinawa type;C3714897:Hereditary spastic paraplegia 57 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at