3-56139660-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_015576.3(ERC2):c.1322A>G(p.Gln441Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000207 in 1,450,458 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015576.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERC2 | NM_015576.3 | c.1322A>G | p.Gln441Arg | missense_variant | 6/18 | ENST00000288221.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERC2 | ENST00000288221.11 | c.1322A>G | p.Gln441Arg | missense_variant | 6/18 | 1 | NM_015576.3 | P1 | |
ERC2 | ENST00000460849.5 | c.1322A>G | p.Gln441Arg | missense_variant, NMD_transcript_variant | 6/19 | 1 | |||
ERC2 | ENST00000492584.3 | c.1322A>G | p.Gln441Arg | missense_variant | 6/18 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1450458Hom.: 0 Cov.: 31 AF XY: 0.00000278 AC XY: 2AN XY: 720302
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 27, 2022 | The c.1322A>G (p.Q441R) alteration is located in exon 6 (coding exon 5) of the ERC2 gene. This alteration results from a A to G substitution at nucleotide position 1322, causing the glutamine (Q) at amino acid position 441 to be replaced by an arginine (R). 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.