X-1623310-A-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001171038.2(ASMT):āc.241A>Gā(p.Lys81Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000636 in 1,613,896 control chromosomes in the GnomAD database, including 6 homozygotes. There are 455 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin ClinVar.
Frequency
Consequence
NM_001171038.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ASMT | NM_001171038.2 | c.241A>G | p.Lys81Glu | missense_variant | 2/9 | ENST00000381241.9 | |
ASMT | NM_001416525.1 | c.241A>G | p.Lys81Glu | missense_variant | 2/8 | ||
ASMT | NM_001171039.1 | c.241A>G | p.Lys81Glu | missense_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASMT | ENST00000381241.9 | c.241A>G | p.Lys81Glu | missense_variant | 2/9 | 1 | NM_001171038.2 | ||
ASMT | ENST00000381229.9 | c.241A>G | p.Lys81Glu | missense_variant | 2/8 | 1 | P1 | ||
ASMT | ENST00000381233.8 | c.241A>G | p.Lys81Glu | missense_variant | 2/7 | 1 |
Frequencies
GnomAD3 genomes AF: 0.00333 AC: 506AN: 152142Hom.: 3 Cov.: 32 AF XY: 0.00293 AC XY: 218AN XY: 74312
GnomAD3 exomes AF: 0.000877 AC: 220AN: 250970Hom.: 0 AF XY: 0.000708 AC XY: 96AN XY: 135662
GnomAD4 exome AF: 0.000355 AC: 519AN: 1461636Hom.: 3 Cov.: 32 AF XY: 0.000323 AC XY: 235AN XY: 727128
GnomAD4 genome AF: 0.00333 AC: 507AN: 152260Hom.: 3 Cov.: 32 AF XY: 0.00296 AC XY: 220AN XY: 74440
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital | Sep 05, 2017 | BS3, BP4; This alteration was found through a well-established in vitro or in vivo functional study to shown no damaging effect on protein function or splicing, and is predicted to be tolerated by multiple functional prediction tools. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at