11-44077916-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_032592.4(ACCS):c.726C>T(p.His242His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,560 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
Consequence
NM_032592.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACCS | NM_032592.4 | c.726C>T | p.His242His | synonymous_variant | Exon 8 of 15 | ENST00000263776.9 | NP_115981.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACCS | ENST00000263776.9 | c.726C>T | p.His242His | synonymous_variant | Exon 8 of 15 | 1 | NM_032592.4 | ENSP00000263776.8 | ||
ACCS | ENST00000527346.5 | n.656C>T | non_coding_transcript_exon_variant | Exon 2 of 7 | 2 | |||||
ACCS | ENST00000531940.1 | n.289C>T | non_coding_transcript_exon_variant | Exon 4 of 5 | 5 | |||||
ACCS | ENST00000533208.5 | n.*217C>T | downstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461560Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727086
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.