NM_024939.3:c.1729T>A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_024939.3(ESRP2):c.1729T>A(p.Tyr577Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000094 in 1,594,974 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. Y577Y) has been classified as Benign.
Frequency
Consequence
NM_024939.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000861 AC: 2AN: 232408Hom.: 0 AF XY: 0.0000160 AC XY: 2AN XY: 124744
GnomAD4 exome AF: 0.00000901 AC: 13AN: 1442886Hom.: 0 Cov.: 31 AF XY: 0.0000126 AC XY: 9AN XY: 716096
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74280
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1729T>A (p.Y577N) alteration is located in exon 13 (coding exon 13) of the ESRP2 gene. This alteration results from a T to A substitution at nucleotide position 1729, causing the tyrosine (Y) at amino acid position 577 to be replaced by an asparagine (N). 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