2-108910513-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_022336.4(EDAR):āc.750C>Gā(p.Ser250Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S250S) has been classified as Benign.
Frequency
Consequence
NM_022336.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EDAR | NM_022336.4 | c.750C>G | p.Ser250Ser | synonymous_variant | Exon 9 of 12 | ENST00000258443.7 | NP_071731.1 | |
EDAR | XM_006712204.2 | c.846C>G | p.Ser282Ser | synonymous_variant | Exon 8 of 11 | XP_006712267.1 | ||
RANBP2 | XM_047445367.1 | c.8370+137467G>C | intron_variant | Intron 24 of 24 | XP_047301323.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EDAR | ENST00000258443.7 | c.750C>G | p.Ser250Ser | synonymous_variant | Exon 9 of 12 | 1 | NM_022336.4 | ENSP00000258443.2 | ||
EDAR | ENST00000376651.1 | c.846C>G | p.Ser282Ser | synonymous_variant | Exon 8 of 11 | 2 | ENSP00000365839.1 | |||
EDAR | ENST00000409271.5 | c.846C>G | p.Ser282Ser | synonymous_variant | Exon 9 of 12 | 2 | ENSP00000386371.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 151884Hom.: 0 Cov.: 29 FAILED QC
GnomAD4 exome Cov.: 46
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 151884Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 74172
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at