10-119853104-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001256378.2(MCMBP):c.520A>G(p.Met174Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000161 in 1,614,102 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. 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. M174T) 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MCMBP | NM_001256378.2 | c.520A>G | p.Met174Val | missense_variant | 6/16 | ENST00000369077.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MCMBP | ENST00000369077.4 | c.520A>G | p.Met174Val | missense_variant | 6/16 | 1 | NM_001256378.2 | P3 | |
MCMBP | ENST00000360003.7 | c.520A>G | p.Met174Val | missense_variant | 6/16 | 2 | A1 | ||
MCMBP | ENST00000466047.5 | n.622A>G | non_coding_transcript_exon_variant | 6/16 | 2 | ||||
MCMBP | ENST00000495407.1 | n.991A>G | non_coding_transcript_exon_variant | 2/5 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152232Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251452Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135900
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461870Hom.: 0 Cov.: 30 AF XY: 0.0000138 AC XY: 10AN XY: 727236
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 05, 2024 | The c.520A>G (p.M174V) alteration is located in exon 6 (coding exon 6) of the MCMBP gene. This alteration results from a A to G substitution at nucleotide position 520, causing the methionine (M) at amino acid position 174 to be replaced by a valine (V). 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