19-40451409-G-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_000713.3(BLVRB):āc.418C>Gā(p.Arg140Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00291 in 1,611,586 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_000713.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BLVRB | NM_000713.3 | c.418C>G | p.Arg140Gly | missense_variant | 4/5 | ENST00000263368.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BLVRB | ENST00000263368.9 | c.418C>G | p.Arg140Gly | missense_variant | 4/5 | 1 | NM_000713.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00193 AC: 293AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00178 AC: 438AN: 245688Hom.: 2 AF XY: 0.00174 AC XY: 231AN XY: 132758
GnomAD4 exome AF: 0.00301 AC: 4398AN: 1459312Hom.: 7 Cov.: 30 AF XY: 0.00299 AC XY: 2171AN XY: 725598
GnomAD4 genome ? AF: 0.00192 AC: 293AN: 152274Hom.: 0 Cov.: 32 AF XY: 0.00176 AC XY: 131AN XY: 74446
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 20, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at