chr18-46124873-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138443.4(HAUS1):c.718T>C(p.Ser240Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00115 in 1,594,632 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: 𝑓 0.00091 ( 0 hom., cov: 31)
Exomes 𝑓: 0.0012 ( 1 hom. )
Consequence
HAUS1
NM_138443.4 missense
NM_138443.4 missense
Scores
6
13
Clinical Significance
Conservation
PhyloP100: 4.85
Genes affected
HAUS1 (HGNC:25174): (HAUS augmin like complex subunit 1) HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
BP4
?
Computational evidence support a benign effect (MetaRNN=0.13929427).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HAUS1 | NM_138443.4 | c.718T>C | p.Ser240Pro | missense_variant | 7/9 | ENST00000282058.11 | |
HAUS1 | NR_026978.2 | n.785T>C | non_coding_transcript_exon_variant | 7/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HAUS1 | ENST00000282058.11 | c.718T>C | p.Ser240Pro | missense_variant | 7/9 | 1 | NM_138443.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000908 AC: 138AN: 151970Hom.: 0 Cov.: 31
GnomAD3 genomes
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GnomAD3 exomes AF: 0.000640 AC: 159AN: 248424Hom.: 0 AF XY: 0.000603 AC XY: 81AN XY: 134308
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GnomAD4 exome AF: 0.00117 AC: 1689AN: 1442662Hom.: 1 Cov.: 25 AF XY: 0.00114 AC XY: 823AN XY: 718944
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GnomAD4 genome ? AF: 0.000908 AC: 138AN: 151970Hom.: 0 Cov.: 31 AF XY: 0.000754 AC XY: 56AN XY: 74240
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.718T>C (p.S240P) alteration is located in exon 7 (coding exon 7) of the HAUS1 gene. This alteration results from a T to C substitution at nucleotide position 718, causing the serine (S) at amino acid position 240 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Uncertain
Cadd
Uncertain
Dann
Uncertain
DEOGEN2
Benign
T
Eigen
Uncertain
Eigen_PC
Uncertain
FATHMM_MKL
Uncertain
D
LIST_S2
Benign
T
M_CAP
Benign
T
MetaRNN
Benign
T
MetaSVM
Benign
T
MutationAssessor
Benign
L
MutationTaster
Benign
D;D;N
PrimateAI
Uncertain
T
PROVEAN
Benign
N
REVEL
Benign
Sift
Benign
T
Sift4G
Benign
T
Polyphen
D
Vest4
MVP
MPC
ClinPred
T
GERP RS
Varity_R
gMVP
Splicing
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Calibrated prediction
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at