8-94662302-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_017697.4(ESRP1):c.521C>G(p.Ser174Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00005 in 1,581,530 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.521C>G | p.Ser174Cys | missense_variant | 5/16 | ENST00000433389.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ESRP1 | ENST00000433389.8 | c.521C>G | p.Ser174Cys | missense_variant | 5/16 | 1 | NM_017697.4 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.000118 AC: 18AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000933 AC: 19AN: 203600Hom.: 0 AF XY: 0.000101 AC XY: 11AN XY: 108398
GnomAD4 exome AF: 0.0000441 AC: 63AN: 1429272Hom.: 0 Cov.: 30 AF XY: 0.0000523 AC XY: 37AN XY: 707416
GnomAD4 genome ? AF: 0.000105 AC: 16AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74438
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 13, 2021 | The c.521C>G (p.S174C) alteration is located in exon 5 (coding exon 5) of the ESRP1 gene. This alteration results from a C to G substitution at nucleotide position 521, causing the serine (S) at amino acid position 174 to be replaced by a cysteine (C). 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