rs762569294
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 2P and 8B. PM1BP4_ModerateBP6_ModerateBS2
The NM_001114753.3(ENG):c.733G>A(p.Gly245Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000329 in 1,611,244 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely 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: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ENG | NM_001114753.3 | c.733G>A | p.Gly245Arg | missense_variant | Exon 6 of 15 | ENST00000373203.9 | NP_001108225.1 | |
ENG | NM_000118.4 | c.733G>A | p.Gly245Arg | missense_variant | Exon 6 of 14 | NP_000109.1 | ||
ENG | NM_001278138.2 | c.187G>A | p.Gly63Arg | missense_variant | Exon 6 of 15 | NP_001265067.1 | ||
ENG | NM_001406715.1 | c.733G>A | p.Gly245Arg | missense_variant | Exon 6 of 8 | NP_001393644.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000267 AC: 4AN: 149910Hom.: 0 Cov.: 26 show subpopulations
GnomAD2 exomes AF: 0.0000240 AC: 6AN: 249994 AF XY: 0.0000295 show subpopulations
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461216Hom.: 0 Cov.: 33 AF XY: 0.0000344 AC XY: 25AN XY: 726906 show subpopulations
GnomAD4 genome AF: 0.0000267 AC: 4AN: 150028Hom.: 0 Cov.: 26 AF XY: 0.0000410 AC XY: 3AN XY: 73120 show subpopulations
ClinVar
Submissions by phenotype
Hereditary hemorrhagic telangiectasia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at