3-50319582-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_003773.5(HYAL2):c.908C>T(p.Thr303Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,611,000 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003773.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HYAL2 | NM_003773.5 | c.908C>T | p.Thr303Met | missense_variant | 2/4 | ENST00000357750.9 | |
HYAL2 | NM_033158.5 | c.908C>T | p.Thr303Met | missense_variant | 3/5 | ||
HYAL2 | XM_005265524.3 | c.908C>T | p.Thr303Met | missense_variant | 3/5 | ||
HYAL2 | XM_005265525.3 | c.908C>T | p.Thr303Met | missense_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HYAL2 | ENST00000357750.9 | c.908C>T | p.Thr303Met | missense_variant | 2/4 | 1 | NM_003773.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000920 AC: 14AN: 152190Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000362 AC: 9AN: 248338Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134558
GnomAD4 exome AF: 0.00000617 AC: 9AN: 1458692Hom.: 0 Cov.: 31 AF XY: 0.00000552 AC XY: 4AN XY: 725142
GnomAD4 genome ? AF: 0.0000919 AC: 14AN: 152308Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74478
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 10, 2022 | The c.908C>T (p.T303M) alteration is located in exon 3 (coding exon 1) of the HYAL2 gene. This alteration results from a C to T substitution at nucleotide position 908, causing the threonine (T) at amino acid position 303 to be replaced by a methionine (M). 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