rs79228041
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PP5BP4
The ENST00000295897.9(ALB):c.1780G>A(p.Glu594Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000958 in 1,461,740 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000295897.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ALB | NM_000477.7 | c.1780G>A | p.Glu594Lys | missense_variant | 13/15 | ENST00000295897.9 | NP_000468.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ALB | ENST00000295897.9 | c.1780G>A | p.Glu594Lys | missense_variant | 13/15 | 1 | NM_000477.7 | ENSP00000295897 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461740Hom.: 0 Cov.: 34 AF XY: 0.00000688 AC XY: 5AN XY: 727162
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
ALBUMIN B Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jun 06, 2012 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at