chr7-150284763-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001164458.2(ACTR3C):c.554C>T(p.Pro185Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000509 in 1,612,270 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P185S) 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.554C>T | p.Pro185Leu | missense_variant | 6/8 | ENST00000683684.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACTR3C | ENST00000683684.1 | c.554C>T | p.Pro185Leu | missense_variant | 6/8 | NM_001164458.2 | P1 | ||
ACTR3C | ENST00000252071.8 | c.554C>T | p.Pro185Leu | missense_variant | 6/8 | 1 | P1 | ||
ACTR3C | ENST00000478393.5 | c.548C>T | p.Pro183Leu | missense_variant | 5/6 | 1 | |||
ACTR3C | ENST00000539352.5 | c.554C>T | p.Pro185Leu | missense_variant | 5/5 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000395 AC: 6AN: 151982Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000641 AC: 16AN: 249598Hom.: 0 AF XY: 0.0000593 AC XY: 8AN XY: 134938
GnomAD4 exome AF: 0.0000520 AC: 76AN: 1460288Hom.: 0 Cov.: 32 AF XY: 0.0000578 AC XY: 42AN XY: 726424
GnomAD4 genome ? AF: 0.0000395 AC: 6AN: 151982Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74228
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 22, 2023 | The c.554C>T (p.P185L) 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 554, causing the proline (P) at amino acid position 185 to be replaced by a leucine (L). 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