rs11718908
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_032383.5(HPS3):c.981A>C(p.Thr327=) variant causes a synonymous 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. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. T327T) has been classified as Benign.
Frequency
Consequence
NM_032383.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HPS3 | NM_032383.5 | c.981A>C | p.Thr327= | synonymous_variant | 5/17 | ENST00000296051.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HPS3 | ENST00000296051.7 | c.981A>C | p.Thr327= | synonymous_variant | 5/17 | 1 | NM_032383.5 | P1 | |
HPS3 | ENST00000460120.5 | c.486A>C | p.Thr162= | synonymous_variant | 4/16 | 2 | |||
HPS3 | ENST00000462030.5 | n.1580A>C | non_coding_transcript_exon_variant | 5/7 | 2 | ||||
HPS3 | ENST00000486530.1 | n.1014A>C | non_coding_transcript_exon_variant | 5/7 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 05, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.