chr7-150284764-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001164458.2(ACTR3C):c.553C>T(p.Pro185Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P185L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001164458.2 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 |
---|---|---|---|---|---|---|---|
ACTR3C | NM_001164458.2 | c.553C>T | p.Pro185Ser | missense_variant | 6/8 | ENST00000683684.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACTR3C | ENST00000683684.1 | c.553C>T | p.Pro185Ser | missense_variant | 6/8 | NM_001164458.2 | P1 | ||
ACTR3C | ENST00000252071.8 | c.553C>T | p.Pro185Ser | missense_variant | 6/8 | 1 | P1 | ||
ACTR3C | ENST00000478393.5 | c.547C>T | p.Pro183Ser | missense_variant | 5/6 | 1 | |||
ACTR3C | ENST00000539352.5 | c.553C>T | p.Pro185Ser | missense_variant | 5/5 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 27, 2022 | The c.553C>T (p.P185S) alteration is located in exon 6 (coding exon 5) of the ACTR3C gene. This alteration results from a C to T substitution at nucleotide position 553, causing the proline (P) at amino acid position 185 to be replaced by a serine (S). 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
Publications
No publications associated with this variant yet.