chr9-127818234-G-C
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001114753.3(ENG):c.1572C>G(p.Pro524Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,868 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P524P) has been classified as Likely benign.
Frequency
Consequence
NM_001114753.3 synonymous
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: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ENG | NM_001114753.3 | c.1572C>G | p.Pro524Pro | synonymous_variant | Exon 12 of 15 | ENST00000373203.9 | NP_001108225.1 | |
ENG | NM_000118.4 | c.1572C>G | p.Pro524Pro | synonymous_variant | Exon 12 of 14 | NP_000109.1 | ||
ENG | NM_001278138.2 | c.1026C>G | p.Pro342Pro | synonymous_variant | Exon 12 of 15 | NP_001265067.1 | ||
LOC102723566 | NR_136302.1 | n.1378-77G>C | intron_variant | Intron 2 of 5 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461868Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727238 show subpopulations
Age Distribution
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at