rs17319801
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_152512.4(ENTHD1):āc.326T>Cā(p.Ile109Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0471 in 1,610,882 control chromosomes in the GnomAD database, including 2,053 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_152512.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ENTHD1 | NM_152512.4 | c.326T>C | p.Ile109Thr | missense_variant | 2/7 | ENST00000325157.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENTHD1 | ENST00000325157.7 | c.326T>C | p.Ile109Thr | missense_variant | 2/7 | 1 | NM_152512.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0374 AC: 5693AN: 152092Hom.: 144 Cov.: 32
GnomAD3 exomes AF: 0.0471 AC: 11699AN: 248612Hom.: 341 AF XY: 0.0484 AC XY: 6511AN XY: 134460
GnomAD4 exome AF: 0.0481 AC: 70104AN: 1458672Hom.: 1909 Cov.: 31 AF XY: 0.0487 AC XY: 35337AN XY: 725626
GnomAD4 genome ? AF: 0.0374 AC: 5699AN: 152210Hom.: 144 Cov.: 32 AF XY: 0.0377 AC XY: 2803AN XY: 74428
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at