rs1800434
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_000014.6(A2M):c.2111G>A(p.Arg704His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000512 in 1,562,640 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_000014.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
A2M | NM_000014.6 | c.2111G>A | p.Arg704His | missense_variant | 17/36 | ENST00000318602.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
A2M | ENST00000318602.12 | c.2111G>A | p.Arg704His | missense_variant | 17/36 | 1 | NM_000014.6 | P1 | |
A2M | ENST00000546069.1 | c.*208G>A | 3_prime_UTR_variant, NMD_transcript_variant | 5/7 | 5 | ||||
A2M | ENST00000545828.1 | n.348+6563G>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152130Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000425 AC: 6AN: 1410510Hom.: 0 Cov.: 28 AF XY: 0.00000572 AC XY: 4AN XY: 698730
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152130Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Submissions by phenotype
ALPHA-2-MACROGLOBULIN POLYMORPHISM Benign:1
Benign, no assertion criteria provided | literature only | OMIM | Apr 30, 1992 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at