rs1078004
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_005911.6(MAT2A):c.792C>G(p.Arg264Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.464 in 1,612,940 control chromosomes in the GnomAD database, including 176,804 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_005911.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAT2A | NM_005911.6 | c.792C>G | p.Arg264Arg | synonymous_variant | Exon 7 of 9 | ENST00000306434.8 | NP_005902.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAT2A | ENST00000306434.8 | c.792C>G | p.Arg264Arg | synonymous_variant | Exon 7 of 9 | 1 | NM_005911.6 | ENSP00000303147.3 | ||
MAT2A | ENST00000409017.1 | c.603C>G | p.Arg201Arg | synonymous_variant | Exon 7 of 8 | 1 | ENSP00000386353.1 | |||
MAT2A | ENST00000481412.5 | n.961C>G | non_coding_transcript_exon_variant | Exon 6 of 7 | 1 |
Frequencies
GnomAD3 genomes AF: 0.513 AC: 77923AN: 151800Hom.: 20955 Cov.: 31
GnomAD3 exomes AF: 0.442 AC: 111092AN: 251118Hom.: 25525 AF XY: 0.442 AC XY: 60052AN XY: 135720
GnomAD4 exome AF: 0.459 AC: 670631AN: 1461022Hom.: 155812 Cov.: 42 AF XY: 0.457 AC XY: 332499AN XY: 726854
GnomAD4 genome AF: 0.514 AC: 78015AN: 151918Hom.: 20992 Cov.: 31 AF XY: 0.510 AC XY: 37837AN XY: 74222
ClinVar
Submissions by phenotype
not specified Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Familial thoracic aortic aneurysm and aortic dissection Benign:1
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not provided Benign:1
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Cardiovascular phenotype Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at