7-74028205-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_000501.4(ELN):c.18G>A(p.Ala6=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000217 in 1,610,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. A6A) has been classified as Likely benign.
Frequency
Consequence
NM_000501.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ELN | NM_000501.4 | c.18G>A | p.Ala6= | synonymous_variant | 1/33 | ENST00000252034.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ELN | ENST00000252034.12 | c.18G>A | p.Ala6= | synonymous_variant | 1/33 | 1 | NM_000501.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000462 AC: 7AN: 151470Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000827 AC: 2AN: 241936Hom.: 0 AF XY: 0.0000151 AC XY: 2AN XY: 132528
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1459300Hom.: 0 Cov.: 32 AF XY: 0.0000207 AC XY: 15AN XY: 726010
GnomAD4 genome AF: 0.0000726 AC: 11AN: 151588Hom.: 0 Cov.: 31 AF XY: 0.0000810 AC XY: 6AN XY: 74110
ClinVar
Submissions by phenotype
ELN-related disorder Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 24, 2022 | The ELN c.18G>A variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00092% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-73442535-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. - |
Supravalvar aortic stenosis Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 05, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at