7-36154875-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The ENST00000242108.9(EEPD1):āc.551A>Gā(p.Asn184Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000222 in 1,614,050 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
ENST00000242108.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EEPD1 | NM_030636.3 | c.551A>G | p.Asn184Ser | missense_variant | 2/8 | ENST00000242108.9 | NP_085139.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EEPD1 | ENST00000242108.9 | c.551A>G | p.Asn184Ser | missense_variant | 2/8 | 1 | NM_030636.3 | ENSP00000242108 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000283 AC: 43AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000386 AC: 97AN: 251348Hom.: 0 AF XY: 0.000346 AC XY: 47AN XY: 135884
GnomAD4 exome AF: 0.000216 AC: 316AN: 1461876Hom.: 3 Cov.: 31 AF XY: 0.000237 AC XY: 172AN XY: 727242
GnomAD4 genome AF: 0.000283 AC: 43AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 06, 2021 | The c.551A>G (p.N184S) alteration is located in exon 2 (coding exon 1) of the EEPD1 gene. This alteration results from a A to G substitution at nucleotide position 551, causing the asparagine (N) at amino acid position 184 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at