rs145699948
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_006494.4(ERF):c.840G>A(p.Ser280Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000801 in 1,608,012 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_006494.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ERF | NM_006494.4 | c.840G>A | p.Ser280Ser | synonymous_variant | Exon 4 of 4 | ENST00000222329.9 | NP_006485.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ERF | ENST00000222329.9 | c.840G>A | p.Ser280Ser | synonymous_variant | Exon 4 of 4 | 1 | NM_006494.4 | ENSP00000222329.3 | ||
ENSG00000268643 | ENST00000594664.1 | c.22+5706G>A | intron_variant | Intron 1 of 4 | 3 | ENSP00000470087.1 | ||||
ERF | ENST00000440177.6 | c.615G>A | p.Ser205Ser | synonymous_variant | Exon 4 of 4 | 2 | ENSP00000388173.2 |
Frequencies
GnomAD3 genomes AF: 0.000487 AC: 74AN: 152070Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000368 AC: 86AN: 233482Hom.: 1 AF XY: 0.000394 AC XY: 50AN XY: 127060
GnomAD4 exome AF: 0.000834 AC: 1214AN: 1455942Hom.: 2 Cov.: 34 AF XY: 0.000809 AC XY: 586AN XY: 723926
GnomAD4 genome AF: 0.000487 AC: 74AN: 152070Hom.: 0 Cov.: 32 AF XY: 0.000444 AC XY: 33AN XY: 74276
ClinVar
Submissions by phenotype
TWIST1-related craniosynostosis Benign:1
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ERF-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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at