21-28885233-G-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_013240.6(N6AMT1):c.113C>A(p.Ala38Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00116 in 1,586,302 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013240.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
N6AMT1 | NM_013240.6 | c.113C>A | p.Ala38Glu | missense_variant | 1/6 | ENST00000303775.10 | |
N6AMT1 | NM_182749.5 | c.113C>A | p.Ala38Glu | missense_variant | 1/5 | ||
N6AMT1 | NR_047510.3 | n.135C>A | non_coding_transcript_exon_variant | 1/7 | |||
N6AMT1 | XR_007067787.1 | n.135C>A | non_coding_transcript_exon_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
N6AMT1 | ENST00000303775.10 | c.113C>A | p.Ala38Glu | missense_variant | 1/6 | 1 | NM_013240.6 | P1 | |
N6AMT1 | ENST00000351429.7 | c.113C>A | p.Ala38Glu | missense_variant | 1/5 | 1 | |||
N6AMT1 | ENST00000460212.1 | c.113C>A | p.Ala38Glu | missense_variant, NMD_transcript_variant | 1/7 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.000611 AC: 93AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000646 AC: 155AN: 239982Hom.: 0 AF XY: 0.000681 AC XY: 89AN XY: 130666
GnomAD4 exome AF: 0.00121 AC: 1742AN: 1433964Hom.: 3 Cov.: 30 AF XY: 0.00115 AC XY: 816AN XY: 710320
GnomAD4 genome ? AF: 0.000610 AC: 93AN: 152338Hom.: 0 Cov.: 33 AF XY: 0.000470 AC XY: 35AN XY: 74496
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 07, 2022 | The c.113C>A (p.A38E) alteration is located in exon 1 (coding exon 1) of the N6AMT1 gene. This alteration results from a C to A substitution at nucleotide position 113, causing the alanine (A) at amino acid position 38 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at