rs6733827
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The 2-85539156-G-A variant causes a upstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00251 in 667,154 control chromosomes in the GnomAD database, including 26 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0083 ( 22 hom., cov: 33)
Exomes 𝑓: 0.00081 ( 4 hom. )
Consequence
MAT2A
NM_005911.6 upstream_gene
NM_005911.6 upstream_gene
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.108
Genes affected
MAT2A (HGNC:6904): (methionine adenosyltransferase 2A) The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.71).
BP6
?
Variant 2-85539156-G-A is Benign according to our data. Variant chr2-85539156-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 679475.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00826 (1257/152194) while in subpopulation AFR AF= 0.0282 (1173/41542). AF 95% confidence interval is 0.0269. There are 22 homozygotes in gnomad4. There are 607 alleles in male gnomad4 subpopulation. Median coverage is 33. This position pass quality control queck.
BS2
?
High AC in GnomAd at 1255 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAT2A | NM_005911.6 | upstream_gene_variant | ENST00000306434.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAT2A | ENST00000306434.8 | upstream_gene_variant | 1 | NM_005911.6 | P1 | ||||
MAT2A | ENST00000465151.5 | upstream_gene_variant | 2 | ||||||
MAT2A | ENST00000469221.5 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00825 AC: 1255AN: 152080Hom.: 22 Cov.: 33
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GnomAD4 exome AF: 0.000812 AC: 418AN: 514960Hom.: 4 Cov.: 7 AF XY: 0.000705 AC XY: 192AN XY: 272422
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GnomAD4 genome ? AF: 0.00826 AC: 1257AN: 152194Hom.: 22 Cov.: 33 AF XY: 0.00816 AC XY: 607AN XY: 74406
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 14, 2018 | 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. - |
Computational scores
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Name
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Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at