NM_006070.6:c.594T>G
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_ModerateBP6_Very_StrongBP7BS2
The NM_006070.6(TFG):āc.594T>Gā(p.Ala198Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00651 in 1,613,938 control chromosomes in the GnomAD database, including 36 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_006070.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00404 AC: 615AN: 152130Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00442 AC: 1110AN: 251178Hom.: 2 AF XY: 0.00463 AC XY: 629AN XY: 135736
GnomAD4 exome AF: 0.00677 AC: 9899AN: 1461690Hom.: 34 Cov.: 31 AF XY: 0.00662 AC XY: 4817AN XY: 727138
GnomAD4 genome AF: 0.00404 AC: 615AN: 152248Hom.: 2 Cov.: 32 AF XY: 0.00340 AC XY: 253AN XY: 74422
ClinVar
Submissions by phenotype
not provided Benign:4
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TFG: BP4, BP7, BS2 -
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not specified Benign:1
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Inborn genetic diseases 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. -
TFG-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Hereditary motor and sensory neuropathy, Okinawa type;C3714897:Hereditary spastic paraplegia 57 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at