NM_001166269.2:c.439C>T
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_001166269.2(HAUS4):c.439C>T(p.Leu147Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,772 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001166269.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HAUS4 | NM_001166269.2 | c.439C>T | p.Leu147Phe | missense_variant | Exon 5 of 10 | ENST00000541587.6 | NP_001159741.1 | |
HAUS4 | NM_017815.3 | c.439C>T | p.Leu147Phe | missense_variant | Exon 5 of 10 | NP_060285.2 | ||
HAUS4 | NM_001166270.2 | c.330+747C>T | intron_variant | Intron 4 of 8 | NP_001159742.1 | |||
PRMT5-DT | NR_110002.1 | n.195-2750G>A | intron_variant | Intron 2 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HAUS4 | ENST00000541587.6 | c.439C>T | p.Leu147Phe | missense_variant | Exon 5 of 10 | 1 | NM_001166269.2 | ENSP00000441026.1 | ||
ENSG00000259132 | ENST00000555074.1 | c.50-3568C>T | intron_variant | Intron 1 of 4 | 2 | ENSP00000450856.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461772Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727196 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.439C>T (p.L147F) alteration is located in exon 5 (coding exon 4) of the HAUS4 gene. This alteration results from a C to T substitution at nucleotide position 439, causing the leucine (L) at amino acid position 147 to be replaced by a phenylalanine (F). 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