NM_001001995.3:c.831T>C
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_001001995.3(GPM6B):āc.831T>Cā(p.Ile277Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00371 in 1,206,763 control chromosomes in the GnomAD database, including 107 homozygotes. There are 1,176 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_001001995.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0189 AC: 2120AN: 112047Hom.: 47 Cov.: 24 AF XY: 0.0166 AC XY: 567AN XY: 34209
GnomAD3 exomes AF: 0.00554 AC: 1013AN: 182769Hom.: 24 AF XY: 0.00345 AC XY: 232AN XY: 67261
GnomAD4 exome AF: 0.00215 AC: 2354AN: 1094663Hom.: 60 Cov.: 27 AF XY: 0.00166 AC XY: 599AN XY: 360199
GnomAD4 genome AF: 0.0190 AC: 2128AN: 112100Hom.: 47 Cov.: 24 AF XY: 0.0168 AC XY: 577AN XY: 34272
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at