X-154792207-C-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_002436.4(MPP1):c.181G>T(p.Val61Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000304 in 1,210,227 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 102 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_002436.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00164 AC: 184AN: 112212Hom.: 0 Cov.: 23 AF XY: 0.00154 AC XY: 53AN XY: 34362
GnomAD3 exomes AF: 0.000405 AC: 74AN: 182848Hom.: 0 AF XY: 0.000252 AC XY: 17AN XY: 67476
GnomAD4 exome AF: 0.000168 AC: 185AN: 1097961Hom.: 0 Cov.: 30 AF XY: 0.000138 AC XY: 50AN XY: 363327
GnomAD4 genome AF: 0.00163 AC: 183AN: 112266Hom.: 0 Cov.: 23 AF XY: 0.00151 AC XY: 52AN XY: 34426
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at