Variant #0000595681 (NC_000003.11:g.[37085971_37085977del;37085978_37095673inv;37095674_37189288delinsACCAT], MLH1(NM_000249.3):c.[1731+2149_1731+2155;1731+2156_*193{1}])

Individual ID 00263983
Chromosome 3
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.[37085971_37085977del;37085978_37095673inv;37095674_37189288delinsACCAT]
DNA change (hg38) g.[37044480_37044486del;37044487_37054182inv;37054183_37147797delinsACCAT]
Published as -
ISCN -
DB-ID MLH1_002152
Variant remarks inversion MLH1 ex16-19, LRRFIP2 del ex4-28, inv ex29
Reference PubMed: Morak 2020, PubMed: Arnold 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 +?/. 15i_19_ c.[1731+2149_1731+2155;1731+2156_*193{1}] r.-198_1731::[NM_006309.2:c.2056_*1225] p.Met1_Ser577::[NP_006300.1:p.Leu686_Ter722]
LRRFIP2 NM_006309.2 +?/. 4i_29_ c.[90+1097_2056-222del;2056-221_*1225{1}] r.-423_90::[NM_000249.3:c.1732_*193] p.Met1_Glu30::[NP_000240.1:p.Glu578_Ter757]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265097 DNA;RNA PCR;RT-PCR;SEQ;SEQ-NG-I germline custom kit covering all exonic and intronic regions of the 4 MMR genes (publication Nissen et at., 2019) LRRFIP2, MLH1, MSH2, MSH6, PMS2 2 Andreas Laner