chr16-3254438-C-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_000243.3(MEFV):c.630G>T(p.Ala210=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,610,784 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. A210A) has been classified as Likely benign.
Frequency
Consequence
NM_000243.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MEFV | NM_000243.3 | c.630G>T | p.Ala210= | synonymous_variant | 2/10 | ENST00000219596.6 | |
MEFV | NM_001198536.2 | c.277+1873G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MEFV | ENST00000219596.6 | c.630G>T | p.Ala210= | synonymous_variant | 2/10 | 1 | NM_000243.3 | P3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000415 AC: 1AN: 240854Hom.: 0 AF XY: 0.00000759 AC XY: 1AN XY: 131824
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1458550Hom.: 0 Cov.: 32 AF XY: 0.00000276 AC XY: 2AN XY: 725360
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74380
ClinVar
Submissions by phenotype
Familial Mediterranean fever Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Feb 09, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at