chr8-94662327-A-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_017697.4(ESRP1):c.546A>C(p.Glu182Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000429 in 1,585,654 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017697.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ESRP1 | NM_017697.4 | c.546A>C | p.Glu182Asp | missense_variant | 5/16 | ENST00000433389.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ESRP1 | ENST00000433389.8 | c.546A>C | p.Glu182Asp | missense_variant | 5/16 | 1 | NM_017697.4 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.000210 AC: 32AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000481 AC: 10AN: 207784Hom.: 0 AF XY: 0.0000271 AC XY: 3AN XY: 110774
GnomAD4 exome AF: 0.0000251 AC: 36AN: 1433348Hom.: 0 Cov.: 30 AF XY: 0.0000225 AC XY: 16AN XY: 709738
GnomAD4 genome ? AF: 0.000210 AC: 32AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 23, 2023 | The c.546A>C (p.E182D) alteration is located in exon 5 (coding exon 5) of the ESRP1 gene. This alteration results from a A to C substitution at nucleotide position 546, causing the glutamic acid (E) at amino acid position 182 to be replaced by an aspartic acid (D). 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