5-113027396-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001085377.2(MCC):āc.2966A>Gā(p.Glu989Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000929 in 1,614,088 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 (ā ).
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.2966A>G | p.Glu989Gly | missense_variant | Exon 19 of 19 | 2 | NM_001085377.2 | ENSP00000386227.3 | ||
MCC | ENST00000302475.9 | c.2396A>G | p.Glu799Gly | missense_variant | Exon 17 of 17 | 1 | ENSP00000305617.4 | |||
MCC | ENST00000515367.6 | c.2207A>G | p.Glu736Gly | missense_variant | Exon 17 of 17 | 5 | ENSP00000421615.2 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152210Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461878Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727240
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2966A>G (p.E989G) alteration is located in exon 19 (coding exon 19) of the MCC gene. This alteration results from a A to G substitution at nucleotide position 2966, causing the glutamic acid (E) at amino acid position 989 to be replaced by a glycine (G). 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