chr12-5494441-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001102654.2(NTF3):c.266G>A(p.Gly89Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0272 in 1,612,718 control chromosomes in the GnomAD database, including 4,527 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G89R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001102654.2 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 |
---|---|---|---|---|---|---|---|
NTF3 | NM_001102654.2 | c.266G>A | p.Gly89Glu | missense_variant | 2/2 | ENST00000423158.4 | |
NTF3 | NM_002527.5 | c.227G>A | p.Gly76Glu | missense_variant | 1/1 | ||
NTF3 | XM_011520963.3 | c.227G>A | p.Gly76Glu | missense_variant | 2/2 | ||
NTF3 | XM_047428901.1 | c.227G>A | p.Gly76Glu | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NTF3 | ENST00000423158.4 | c.266G>A | p.Gly89Glu | missense_variant | 2/2 | 1 | NM_001102654.2 | P4 | |
NTF3 | ENST00000331010.7 | c.227G>A | p.Gly76Glu | missense_variant | 1/1 | A1 | |||
NTF3 | ENST00000543548.1 | n.456G>A | non_coding_transcript_exon_variant | 2/2 | 3 | ||||
NTF3 | ENST00000535299.5 | n.232-12124G>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0796 AC: 12087AN: 151776Hom.: 1139 Cov.: 31
GnomAD3 exomes AF: 0.0689 AC: 17118AN: 248484Hom.: 2135 AF XY: 0.0539 AC XY: 7268AN XY: 134792
GnomAD4 exome AF: 0.0218 AC: 31810AN: 1460824Hom.: 3378 Cov.: 31 AF XY: 0.0198 AC XY: 14385AN XY: 726784
GnomAD4 genome AF: 0.0799 AC: 12135AN: 151894Hom.: 1149 Cov.: 31 AF XY: 0.0819 AC XY: 6078AN XY: 74232
ClinVar
Submissions by phenotype
Aganglionic megacolon Benign:1
Likely benign, no assertion criteria provided | research | Human Genomics Unit, Institute for molecular medicine Finland (FIMM) | - | - - |
not provided Benign:1
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at