rs201961752
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 1P and 12B. PP2BP4_StrongBS1BS2
The NM_003922.4(HERC1):āc.10424G>Cā(p.Gly3475Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000527 in 1,613,112 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G3475E) has been classified as Uncertain significance.
Frequency
Consequence
NM_003922.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HERC1 | NM_003922.4 | c.10424G>C | p.Gly3475Ala | missense_variant | 53/78 | ENST00000443617.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HERC1 | ENST00000443617.7 | c.10424G>C | p.Gly3475Ala | missense_variant | 53/78 | 1 | NM_003922.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000927 AC: 23AN: 248090Hom.: 1 AF XY: 0.000134 AC XY: 18AN XY: 134682
GnomAD4 exome AF: 0.0000554 AC: 81AN: 1460784Hom.: 2 Cov.: 30 AF XY: 0.0000798 AC XY: 58AN XY: 726702
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152328Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74492
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at