chr5-113029027-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001085377.2(MCC):āc.2786A>Gā(p.Glu929Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000376 in 1,461,232 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MCC | ENST00000408903.7 | c.2786A>G | p.Glu929Gly | missense_variant | Exon 18 of 19 | 2 | NM_001085377.2 | ENSP00000386227.3 | ||
MCC | ENST00000302475.9 | c.2216A>G | p.Glu739Gly | missense_variant | Exon 16 of 17 | 1 | ENSP00000305617.4 | |||
MCC | ENST00000515367.6 | c.2027A>G | p.Glu676Gly | missense_variant | Exon 16 of 17 | 5 | ENSP00000421615.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250600Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135436
GnomAD4 exome AF: 0.0000376 AC: 55AN: 1461232Hom.: 0 Cov.: 31 AF XY: 0.0000385 AC XY: 28AN XY: 726918
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2786A>G (p.E929G) alteration is located in exon 18 (coding exon 18) of the MCC gene. This alteration results from a A to G substitution at nucleotide position 2786, causing the glutamic acid (E) at amino acid position 929 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