chr9-127825750-C-G
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001114753.3(ENG):c.634G>C(p.Val212Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/22 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V212M) has been classified as Benign.
Frequency
Consequence
NM_001114753.3 missense
Scores
Clinical Significance
Conservation
Publications
- telangiectasia, hereditary hemorrhagic, type 1Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), G2P, Genomics England PanelApp, ClinGen
- hereditary hemorrhagic telangiectasiaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- juvenile polyposis syndromeInheritance: AD Classification: LIMITED Submitted by: ClinGen
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ENG | NM_001114753.3 | c.634G>C | p.Val212Leu | missense_variant | Exon 5 of 15 | ENST00000373203.9 | NP_001108225.1 | |
ENG | NM_000118.4 | c.634G>C | p.Val212Leu | missense_variant | Exon 5 of 14 | NP_000109.1 | ||
ENG | NM_001278138.2 | c.88G>C | p.Val30Leu | missense_variant | Exon 5 of 15 | NP_001265067.1 | ||
ENG | NM_001406715.1 | c.634G>C | p.Val212Leu | missense_variant | Exon 5 of 8 | NP_001393644.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at