8-27658547-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016240.3(SCARA3):c.377G>A(p.Gly126Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,613,784 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016240.3 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 | UniProt |
---|---|---|---|---|---|---|---|
SCARA3 | NM_016240.3 | c.377G>A | p.Gly126Glu | missense_variant | 5/6 | ENST00000301904.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SCARA3 | ENST00000301904.4 | c.377G>A | p.Gly126Glu | missense_variant | 5/6 | 1 | NM_016240.3 | P1 | |
SCARA3 | ENST00000337221.8 | c.377G>A | p.Gly126Glu | missense_variant | 5/6 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152202Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000677 AC: 17AN: 250924Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135592
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461582Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727062
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152202Hom.: 0 Cov.: 31 AF XY: 0.0000403 AC XY: 3AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at