NM_001385261.1:c.253G>A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001385261.1(CGB7):c.253G>A(p.Glu85Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001385261.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CGB7 | NM_001385261.1 | c.253G>A | p.Glu85Lys | missense_variant | Exon 5 of 5 | ENST00000684222.1 | NP_001372190.1 | |
CGB7 | NM_033142.2 | c.253G>A | p.Glu85Lys | missense_variant | Exon 5 of 5 | NP_149133.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CGB7 | ENST00000684222.1 | c.253G>A | p.Glu85Lys | missense_variant | Exon 5 of 5 | NM_001385261.1 | ENSP00000507822.1 | |||
CGB7 | ENST00000596965.5 | c.253G>A | p.Glu85Lys | missense_variant | Exon 5 of 5 | 2 | ENSP00000469076.1 | |||
CGB7 | ENST00000597853.5 | c.253G>A | p.Glu85Lys | missense_variant | Exon 5 of 5 | 2 | ENSP00000470813.1 |
Frequencies
GnomAD3 genomes AF: 0.0000603 AC: 8AN: 132738Hom.: 0 Cov.: 19
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000554 AC: 7AN: 1262478Hom.: 0 Cov.: 23 AF XY: 0.00000796 AC XY: 5AN XY: 628388
GnomAD4 genome AF: 0.0000602 AC: 8AN: 132844Hom.: 0 Cov.: 19 AF XY: 0.0000946 AC XY: 6AN XY: 63442
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.253G>A (p.E85K) alteration is located in exon 3 (coding exon 3) of the CGB7 gene. This alteration results from a G to A substitution at nucleotide position 253, causing the glutamic acid (E) at amino acid position 85 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at