NM_001001995.3:c.723C>T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_001001995.3(GPM6B):c.723C>T(p.Pro241Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000065 in 1,199,891 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 24 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001001995.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000134 AC: 15AN: 111663Hom.: 0 Cov.: 23 AF XY: 0.000118 AC XY: 4AN XY: 33895
GnomAD3 exomes AF: 0.000131 AC: 24AN: 183163Hom.: 0 AF XY: 0.0000739 AC XY: 5AN XY: 67663
GnomAD4 exome AF: 0.0000579 AC: 63AN: 1088228Hom.: 0 Cov.: 27 AF XY: 0.0000565 AC XY: 20AN XY: 354154
GnomAD4 genome AF: 0.000134 AC: 15AN: 111663Hom.: 0 Cov.: 23 AF XY: 0.000118 AC XY: 4AN XY: 33895
ClinVar
Submissions by phenotype
not provided Benign:1
GPM6B: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at