rs11937432
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001303143.2(HAUS3):āc.1757T>Cā(p.Ile586Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0498 in 1,487,268 control chromosomes in the GnomAD database, including 2,493 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001303143.2 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 |
---|---|---|---|---|---|---|---|
HAUS3 | NM_001303143.2 | c.1757T>C | p.Ile586Thr | missense_variant | 6/6 | ENST00000443786.3 | |
POLN | NM_181808.4 | c.-12-2739T>C | intron_variant | ENST00000511885.6 | |||
HAUS3 | NM_024511.7 | c.1757T>C | p.Ile586Thr | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HAUS3 | ENST00000443786.3 | c.1757T>C | p.Ile586Thr | missense_variant | 6/6 | 1 | NM_001303143.2 | P1 | |
POLN | ENST00000511885.6 | c.-12-2739T>C | intron_variant | 5 | NM_181808.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0805 AC: 12249AN: 152078Hom.: 733 Cov.: 32
GnomAD3 exomes AF: 0.0590 AC: 13806AN: 234040Hom.: 514 AF XY: 0.0555 AC XY: 7036AN XY: 126674
GnomAD4 exome AF: 0.0463 AC: 61831AN: 1335072Hom.: 1757 Cov.: 22 AF XY: 0.0463 AC XY: 30996AN XY: 669478
GnomAD4 genome ? AF: 0.0806 AC: 12270AN: 152196Hom.: 736 Cov.: 32 AF XY: 0.0790 AC XY: 5878AN XY: 74428
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at