chr4-88680166-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP2PP3_Moderate
The NM_014606.3(HERC3):c.2270A>T(p.Glu757Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,118 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014606.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HERC3 | NM_014606.3 | c.2270A>T | p.Glu757Val | missense_variant | 20/26 | ENST00000402738.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HERC3 | ENST00000402738.6 | c.2270A>T | p.Glu757Val | missense_variant | 20/26 | 1 | NM_014606.3 | P1 | |
HERC3 | ENST00000264345.7 | c.2270A>T | p.Glu757Val | missense_variant | 18/24 | 1 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461118Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726864
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 25, 2022 | The c.2270A>T (p.E757V) alteration is located in exon 20 (coding exon 18) of the HERC3 gene. This alteration results from a A to T substitution at nucleotide position 2270, causing the glutamic acid (E) at amino acid position 757 to be replaced by a valine (V). 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
Publications
No publications associated with this variant yet.