rs2285044
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003549.4(HYAL3):c.-35A>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 33)
Consequence
HYAL3
NM_003549.4 5_prime_UTR_premature_start_codon_gain
NM_003549.4 5_prime_UTR_premature_start_codon_gain
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.06
Genes affected
HYAL3 (HGNC:5322): (hyaluronidase 3) This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]
NAA80 (HGNC:30252): (N-alpha-acetyltransferase 80, NatH catalytic subunit) This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.71).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HYAL3 | NM_003549.4 | c.-35A>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 4 | ENST00000336307.6 | NP_003540.2 | ||
NAA80 | NM_001200016.2 | c.-227A>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 2 | ENST00000443094.3 | NP_001186945.1 | ||
HYAL3 | NM_003549.4 | c.-35A>T | 5_prime_UTR_variant | Exon 1 of 4 | ENST00000336307.6 | NP_003540.2 | ||
NAA80 | NM_001200016.2 | c.-227A>T | 5_prime_UTR_variant | Exon 1 of 2 | ENST00000443094.3 | NP_001186945.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HYAL3 | ENST00000336307.6 | c.-35A>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 4 | 1 | NM_003549.4 | ENSP00000337425.1 | |||
NAA80 | ENST00000443094.3 | c.-227A>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 2 | 1 | NM_001200016.2 | ENSP00000410610.2 | |||
HYAL3 | ENST00000336307.6 | c.-35A>T | 5_prime_UTR_variant | Exon 1 of 4 | 1 | NM_003549.4 | ENSP00000337425.1 | |||
NAA80 | ENST00000443094.3 | c.-227A>T | 5_prime_UTR_variant | Exon 1 of 2 | 1 | NM_001200016.2 | ENSP00000410610.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 genomes
Cov.:
33
GnomAD4 exome Cov.: 31
GnomAD4 exome
Cov.:
31
GnomAD4 genome Cov.: 33
GnomAD4 genome
Cov.:
33
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at