chr6-53269166-CA-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_021814.5(ELOVL5):βc.860delβ(p.Leu287ArgfsTer5) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000341 in 1,613,884 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (β ). Synonymous variant affecting the same amino acid position (i.e. L287L) has been classified as Likely benign.
Frequency
Consequence
NM_021814.5 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ELOVL5 | NM_021814.5 | c.860del | p.Leu287ArgfsTer5 | frameshift_variant | 8/8 | ENST00000304434.11 | |
ELOVL5 | NM_001242828.2 | c.941del | p.Leu314ArgfsTer5 | frameshift_variant | 9/9 | ||
ELOVL5 | NM_001301856.2 | c.860del | p.Leu287ArgfsTer5 | frameshift_variant | 8/8 | ||
ELOVL5 | NM_001242830.2 | c.735del | p.Gly246GlufsTer13 | frameshift_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ELOVL5 | ENST00000304434.11 | c.860del | p.Leu287ArgfsTer5 | frameshift_variant | 8/8 | 1 | NM_021814.5 | P1 | |
ELOVL5 | ENST00000542638.5 | c.735del | p.Gly246GlufsTer13 | frameshift_variant | 7/7 | 1 | |||
ELOVL5 | ENST00000370918.8 | c.941del | p.Leu314ArgfsTer5 | frameshift_variant | 9/9 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152100Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251012Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135692
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461666Hom.: 1 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 727126
GnomAD4 genome AF: 0.000145 AC: 22AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74420
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at