5-113028982-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001085377.2(MCC):c.2831G>A(p.Arg944Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000116 in 1,461,758 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_001085377.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MCC | ENST00000408903.7 | c.2831G>A | p.Arg944Gln | missense_variant | Exon 18 of 19 | 2 | NM_001085377.2 | ENSP00000386227.3 | ||
MCC | ENST00000302475.9 | c.2261G>A | p.Arg754Gln | missense_variant | Exon 16 of 17 | 1 | ENSP00000305617.4 | |||
MCC | ENST00000515367.6 | c.2072G>A | p.Arg691Gln | missense_variant | Exon 16 of 17 | 5 | ENSP00000421615.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461758Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 727178
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2831G>A (p.R944Q) alteration is located in exon 18 (coding exon 18) of the MCC gene. This alteration results from a G to A substitution at nucleotide position 2831, causing the arginine (R) at amino acid position 944 to be replaced by a glutamine (Q). 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