chr10-119838694-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001256378.2(MCMBP):c.1249C>T(p.Arg417Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000414 in 1,447,674 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. R417H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001256378.2 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 |
---|---|---|---|---|---|---|---|
MCMBP | NM_001256378.2 | c.1249C>T | p.Arg417Cys | missense_variant | 12/16 | ENST00000369077.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MCMBP | ENST00000369077.4 | c.1249C>T | p.Arg417Cys | missense_variant | 12/16 | 1 | NM_001256378.2 | P3 | |
MCMBP | ENST00000360003.7 | c.1255C>T | p.Arg419Cys | missense_variant | 12/16 | 2 | A1 | ||
MCMBP | ENST00000466047.5 | n.1351C>T | non_coding_transcript_exon_variant | 12/16 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000414 AC: 6AN: 1447674Hom.: 0 Cov.: 30 AF XY: 0.00000695 AC XY: 5AN XY: 719136
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 01, 2022 | The c.1255C>T (p.R419C) alteration is located in exon 12 (coding exon 12) of the MCMBP gene. This alteration results from a C to T substitution at nucleotide position 1255, causing the arginine (R) at amino acid position 419 to be replaced by a cysteine (C). 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