rs1801591
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 1P and 20B. PP3BP4_StrongBP6_Very_StrongBA1
The NM_000126.4(ETFA):c.512C>T(p.Thr171Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0821 in 1,612,408 control chromosomes in the GnomAD database, including 6,118 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000126.4 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 rank | MANE | Protein | UniProt |
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ETFA | NM_000126.4 | c.512C>T | p.Thr171Ile | missense_variant | Exon 6 of 12 | ENST00000557943.6 | NP_000117.1 | |
ETFA | NM_001127716.2 | c.365C>T | p.Thr122Ile | missense_variant | Exon 5 of 11 | NP_001121188.1 | ||
ETFA | XR_007064434.1 | n.593C>T | non_coding_transcript_exon_variant | Exon 6 of 12 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0643 AC: 9783AN: 152150Hom.: 433 Cov.: 32
GnomAD3 exomes AF: 0.0736 AC: 18483AN: 251282Hom.: 810 AF XY: 0.0757 AC XY: 10285AN XY: 135808
GnomAD4 exome AF: 0.0840 AC: 122594AN: 1460138Hom.: 5685 Cov.: 30 AF XY: 0.0837 AC XY: 60798AN XY: 726474
GnomAD4 genome AF: 0.0643 AC: 9790AN: 152270Hom.: 433 Cov.: 32 AF XY: 0.0663 AC XY: 4933AN XY: 74446
ClinVar
Submissions by phenotype
Multiple acyl-CoA dehydrogenase deficiency Benign:5
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This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
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not specified Benign:3
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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. -
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at