rs3809849
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_014520.4(MYBBP1A):c.22C>G(p.Gln8Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.222 in 1,603,622 control chromosomes in the GnomAD database, including 40,009 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_014520.4 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 |
---|---|---|---|---|---|---|---|
MYBBP1A | NM_014520.4 | c.22C>G | p.Gln8Glu | missense_variant | 1/26 | ENST00000254718.9 | |
MYBBP1A | NM_001105538.2 | c.22C>G | p.Gln8Glu | missense_variant | 1/27 | ||
MYBBP1A | XM_024450536.2 | c.22C>G | p.Gln8Glu | missense_variant | 1/25 | ||
MYBBP1A | XM_047435119.1 | c.22C>G | p.Gln8Glu | missense_variant | 1/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYBBP1A | ENST00000254718.9 | c.22C>G | p.Gln8Glu | missense_variant | 1/26 | 1 | NM_014520.4 | P2 | |
MYBBP1A | ENST00000381556.6 | c.22C>G | p.Gln8Glu | missense_variant | 1/27 | 5 | A2 | ||
MYBBP1A | ENST00000570986.1 | n.56C>G | non_coding_transcript_exon_variant | 1/6 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.216 AC: 32816AN: 152172Hom.: 3519 Cov.: 34
GnomAD3 exomes AF: 0.209 AC: 47640AN: 228244Hom.: 4943 AF XY: 0.210 AC XY: 26261AN XY: 124826
GnomAD4 exome AF: 0.223 AC: 323191AN: 1451332Hom.: 36485 Cov.: 35 AF XY: 0.222 AC XY: 159982AN XY: 721276
GnomAD4 genome ? AF: 0.216 AC: 32855AN: 152290Hom.: 3524 Cov.: 34 AF XY: 0.214 AC XY: 15953AN XY: 74466
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Sep 29, 2020 | This variant is associated with the following publications: (PMID: 23129390) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at