rs35455589
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003773.5(HYAL2):c.1252A>T(p.Ile418Phe) 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 1,461,190 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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. I418L) has been classified as Likely benign.
Frequency
Consequence
NM_003773.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HYAL2 | NM_003773.5 | c.1252A>T | p.Ile418Phe | missense_variant | 4/4 | ENST00000357750.9 | NP_003764.3 | |
HYAL2 | NM_033158.5 | c.1252A>T | p.Ile418Phe | missense_variant | 5/5 | NP_149348.2 | ||
HYAL2 | XM_005265524.3 | c.1252A>T | p.Ile418Phe | missense_variant | 5/5 | XP_005265581.1 | ||
HYAL2 | XM_005265525.3 | c.1252A>T | p.Ile418Phe | missense_variant | 4/4 | XP_005265582.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HYAL2 | ENST00000357750.9 | c.1252A>T | p.Ile418Phe | missense_variant | 4/4 | 1 | NM_003773.5 | ENSP00000350387.4 | ||
HYAL2 | ENST00000395139.7 | c.1252A>T | p.Ile418Phe | missense_variant | 4/4 | 1 | ENSP00000378571.3 | |||
HYAL2 | ENST00000447092.5 | c.1252A>T | p.Ile418Phe | missense_variant | 3/3 | 1 | ENSP00000401853.1 | |||
HYAL2 | ENST00000442581.1 | c.1252A>T | p.Ile418Phe | missense_variant | 5/5 | 2 | ENSP00000406657.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250792Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135746
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461190Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726914
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at