NM_015601.4:c.2497G>A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_015601.4(HERC4):c.2497G>A(p.Val833Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000059 in 1,609,674 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★).
Frequency
Consequence
NM_015601.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HERC4 | NM_015601.4 | c.2497G>A | p.Val833Ile | missense_variant | Exon 20 of 25 | ENST00000373700.9 | NP_056416.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000263 AC: 40AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000486 AC: 12AN: 247032Hom.: 0 AF XY: 0.0000299 AC XY: 4AN XY: 133578
GnomAD4 exome AF: 0.0000377 AC: 55AN: 1457390Hom.: 0 Cov.: 30 AF XY: 0.0000304 AC XY: 22AN XY: 724714
GnomAD4 genome AF: 0.000263 AC: 40AN: 152284Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2521G>A (p.V841I) alteration is located in exon 21 (coding exon 19) of the HERC4 gene. This alteration results from a G to A substitution at nucleotide position 2521, causing the valine (V) at amino acid position 841 to be replaced by an isoleucine (I). 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