1-209615314-TCACGGATCTGCTC-T
Variant summary
Our verdict is Uncertain significance. The variant received 3 ACMG points: 3P and 0B. PVS1_ModeratePP5
The NM_000228.3(LAMB3):c.3463_3475delGAGCAGATCCGTG(p.Glu1155ThrfsTer51) variant causes a frameshift change. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Consequence
NM_000228.3 frameshift
Scores
Clinical Significance
Conservation
Publications
- junctional epidermolysis bullosaInheritance: AR Classification: DEFINITIVE Submitted by: Myriad Women’s Health
- junctional epidermolysis bullosa Herlitz typeInheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae), Genomics England PanelApp, Orphanet, Laboratory for Molecular Medicine
- junctional epidermolysis bullosa, non-Herlitz typeInheritance: AR Classification: DEFINITIVE, STRONG Submitted by: PanelApp Australia, Genomics England PanelApp, Ambry Genetics
- amelogenesis imperfecta type 1AInheritance: AD Classification: STRONG, MODERATE Submitted by: Labcorp Genetics (formerly Invitae), Ambry Genetics
- amelogenesis imperfecta type 1Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- generalized junctional epidermolysis bullosa non-Herlitz typeInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LAMB3 | NM_000228.3 | c.3463_3475delGAGCAGATCCGTG | p.Glu1155ThrfsTer51 | frameshift_variant | Exon 23 of 23 | ENST00000356082.9 | NP_000219.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LAMB3 | ENST00000356082.9 | c.3463_3475delGAGCAGATCCGTG | p.Glu1155ThrfsTer51 | frameshift_variant | Exon 23 of 23 | 1 | NM_000228.3 | ENSP00000348384.3 | ||
LAMB3 | ENST00000367030.7 | c.3463_3475delGAGCAGATCCGTG | p.Glu1155ThrfsTer51 | frameshift_variant | Exon 23 of 23 | 1 | ENSP00000355997.3 | |||
LAMB3 | ENST00000391911.5 | c.3463_3475delGAGCAGATCCGTG | p.Glu1155ThrfsTer51 | frameshift_variant | Exon 22 of 22 | 1 | ENSP00000375778.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Amelogenesis imperfecta Pathogenic:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at