chr7-100099174-T-C
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005916.5(MCM7):c.431A>G(p.Asn144Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.261 in 1,613,792 control chromosomes in the GnomAD database, including 57,993 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005916.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MCM7 | NM_005916.5 | c.431A>G | p.Asn144Ser | missense_variant | Exon 5 of 15 | ENST00000303887.10 | NP_005907.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.203 AC: 30788AN: 151882Hom.: 3889 Cov.: 30 show subpopulations
GnomAD2 exomes AF: 0.239 AC: 60161AN: 251466 AF XY: 0.245 show subpopulations
GnomAD4 exome AF: 0.267 AC: 390920AN: 1461792Hom.: 54102 Cov.: 48 AF XY: 0.267 AC XY: 193993AN XY: 727196 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.203 AC: 30793AN: 152000Hom.: 3891 Cov.: 30 AF XY: 0.203 AC XY: 15097AN XY: 74284 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at