chr12-6971024-C-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_006331.8(EMG1):āc.101C>Gā(p.Ala34Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0368 in 1,611,376 control chromosomes in the GnomAD database, including 1,281 homozygotes. In-silico tool predicts a benign outcome for this variant. 9/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_006331.8 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 |
---|---|---|---|---|---|---|---|
EMG1 | NM_006331.8 | c.101C>G | p.Ala34Gly | missense_variant | 1/6 | ENST00000599672.6 | |
EMG1 | NM_001320049.2 | c.101C>G | p.Ala34Gly | missense_variant | 1/5 | ||
EMG1 | NR_135131.2 | n.112C>G | non_coding_transcript_exon_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EMG1 | ENST00000599672.6 | c.101C>G | p.Ala34Gly | missense_variant | 1/6 | 1 | NM_006331.8 | P1 | |
EMG1 | ENST00000611981.1 | n.112C>G | non_coding_transcript_exon_variant | 1/4 | 2 | ||||
EMG1 | ENST00000620255.1 | n.90C>G | non_coding_transcript_exon_variant | 1/2 | 2 | ||||
EMG1 | ENST00000539196.2 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0285 AC: 4336AN: 152052Hom.: 89 Cov.: 32
GnomAD3 exomes AF: 0.0301 AC: 7059AN: 234174Hom.: 149 AF XY: 0.0297 AC XY: 3776AN XY: 127172
GnomAD4 exome AF: 0.0376 AC: 54889AN: 1459204Hom.: 1192 Cov.: 32 AF XY: 0.0367 AC XY: 26630AN XY: 725624
GnomAD4 genome AF: 0.0285 AC: 4334AN: 152172Hom.: 89 Cov.: 32 AF XY: 0.0289 AC XY: 2153AN XY: 74396
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia | Feb 13, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at