3-50294924-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003549.4(HYAL3):c.679C>T(p.Arg227Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000163 in 1,598,426 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003549.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152208Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000102 AC: 25AN: 246128Hom.: 0 AF XY: 0.0000902 AC XY: 12AN XY: 132972
GnomAD4 exome AF: 0.000167 AC: 242AN: 1446218Hom.: 0 Cov.: 30 AF XY: 0.000159 AC XY: 114AN XY: 716532
GnomAD4 genome AF: 0.000125 AC: 19AN: 152208Hom.: 0 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.679C>T (p.R227C) alteration is located in exon 2 (coding exon 1) of the HYAL3 gene. This alteration results from a C to T substitution at nucleotide position 679, causing the arginine (R) at amino acid position 227 to be replaced by a cysteine (C). 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