rs77645174
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000477.7(ALB):c.1678A>G(p.Lys560Glu) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,664 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as other (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Synonymous variant affecting the same amino acid position (i.e. K560K) has been classified as Uncertain significance.
Frequency
Consequence
NM_000477.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ALB | NM_000477.7 | c.1678A>G | p.Lys560Glu | missense_variant | 13/15 | ENST00000295897.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ALB | ENST00000295897.9 | c.1678A>G | p.Lys560Glu | missense_variant | 13/15 | 1 | NM_000477.7 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251086Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135684
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461664Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727144
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
ALBUMIN CASTEL DI SANGRO Other:1
other, no assertion criteria provided | literature only | OMIM | Jul 18, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at