NM_000096.4:c.1632A>T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000096.4(CP):c.1632A>T(p.Glu544Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.925 in 1,609,336 control chromosomes in the GnomAD database, including 691,101 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000096.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.873 AC: 132690AN: 152002Hom.: 58797 Cov.: 31
GnomAD3 exomes AF: 0.923 AC: 231447AN: 250842Hom.: 107415 AF XY: 0.922 AC XY: 125080AN XY: 135666
GnomAD4 exome AF: 0.930 AC: 1355729AN: 1457216Hom.: 632272 Cov.: 36 AF XY: 0.929 AC XY: 673906AN XY: 725250
GnomAD4 genome AF: 0.873 AC: 132774AN: 152120Hom.: 58829 Cov.: 31 AF XY: 0.873 AC XY: 64906AN XY: 74348
ClinVar
Submissions by phenotype
not specified Benign:5
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Deficiency of ferroxidase Benign:2
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at