chr19-51354360-T-TG
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 8P and 16B. PVS1BP6_Very_StrongBS1BS2
The NM_001014763.1(ETFB):c.278dupC(p.Pro94ThrfsTer8) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0383 in 1,613,884 control chromosomes in the GnomAD database, including 1,438 homozygotes. Variant has been reported in ClinVar as Benign (★★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001014763.1 frameshift
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ETFB | NM_001985.3 | c.58-53dupC | intron_variant | Intron 1 of 5 | ENST00000309244.9 | NP_001976.1 | ||
ETFB | NM_001014763.1 | c.278dupC | p.Pro94ThrfsTer8 | frameshift_variant | Exon 1 of 5 | NP_001014763.1 | ||
ETFB | XM_024451418.2 | c.-54-53dupC | intron_variant | Intron 1 of 5 | XP_024307186.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0295 AC: 4475AN: 151944Hom.: 102 Cov.: 32
GnomAD3 exomes AF: 0.0340 AC: 8516AN: 250442Hom.: 205 AF XY: 0.0366 AC XY: 4956AN XY: 135394
GnomAD4 exome AF: 0.0392 AC: 57293AN: 1461822Hom.: 1335 Cov.: 33 AF XY: 0.0397 AC XY: 28902AN XY: 727212
GnomAD4 genome AF: 0.0294 AC: 4476AN: 152062Hom.: 103 Cov.: 32 AF XY: 0.0290 AC XY: 2159AN XY: 74354
ClinVar
Submissions by phenotype
Multiple acyl-CoA dehydrogenase deficiency Uncertain:1Benign:1
- -
South Asian population allele frequency is 4.479% (rs141529162, 1,433/30,614 alleles, 58 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.1.0, this variant is classified as BENIGN. Following criteria are met: BA1 -
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 406/12518=3.24% -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at