rs2229523
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_002526.4(NT5E):c.1126A>G(p.Thr376Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.697 in 1,611,060 control chromosomes in the GnomAD database, including 397,207 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002526.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NT5E | NM_002526.4 | c.1126A>G | p.Thr376Ala | missense_variant | 6/9 | ENST00000257770.8 | |
NT5E | NM_001204813.2 | c.1126A>G | p.Thr376Ala | missense_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NT5E | ENST00000257770.8 | c.1126A>G | p.Thr376Ala | missense_variant | 6/9 | 1 | NM_002526.4 | P1 | |
NT5E | ENST00000369651.7 | c.1126A>G | p.Thr376Ala | missense_variant | 6/8 | 2 | |||
NT5E | ENST00000416334.5 | c.421A>G | p.Thr141Ala | missense_variant | 4/5 | 3 | |||
NT5E | ENST00000437581.1 | c.214A>G | p.Thr72Ala | missense_variant | 3/5 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.763 AC: 115955AN: 151954Hom.: 45368 Cov.: 31
GnomAD3 exomes AF: 0.732 AC: 183773AN: 250940Hom.: 68806 AF XY: 0.730 AC XY: 99000AN XY: 135612
GnomAD4 exome AF: 0.690 AC: 1006827AN: 1458986Hom.: 351778 Cov.: 37 AF XY: 0.693 AC XY: 503263AN XY: 725922
GnomAD4 genome ? AF: 0.763 AC: 116079AN: 152074Hom.: 45429 Cov.: 31 AF XY: 0.763 AC XY: 56754AN XY: 74338
ClinVar
Submissions by phenotype
Hereditary arterial and articular multiple calcification syndrome Uncertain:1Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Sep 05, 2021 | - - |
Uncertain significance, no assertion criteria provided | research | Sayed Lab, Stanford University | Jan 01, 2022 | - - |
not specified Benign:2
Benign, no assertion criteria provided | clinical testing | Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ | - | - - |
Benign, no assertion criteria provided | clinical testing | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at