NM_000249.4(MLH1):c.543C>G (p.Gly181=) AND Lynch syndrome

Clinical significance:Likely pathogenic (Last evaluated: Oct 18, 2018)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000781999.1

Allele description [Variation Report for NM_000249.4(MLH1):c.543C>G (p.Gly181=)]

NM_000249.4(MLH1):c.543C>G (p.Gly181=)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.543C>G (p.Gly181=)
HGVS:
  • NC_000003.12:g.37008903C>G
  • NG_007109.2:g.20554C>G
  • NM_000249.4:c.543C>GMANE SELECT
  • NM_001167617.3:c.249C>G
  • NM_001167618.3:c.-181C>G
  • NM_001167619.3:c.-179+1840C>G
  • NM_001258271.2:c.543C>G
  • NM_001258273.2:c.-181C>G
  • NM_001258274.3:c.-181C>G
  • NM_001354615.2:c.-179+1840C>G
  • NM_001354616.2:c.-179+1840C>G
  • NM_001354617.2:c.-181C>G
  • NM_001354618.2:c.-181C>G
  • NM_001354619.2:c.-181C>G
  • NM_001354620.2:c.249C>G
  • NM_001354621.2:c.-274C>G
  • NM_001354622.2:c.-387C>G
  • NM_001354623.2:c.-387C>G
  • NM_001354624.2:c.-284C>G
  • NM_001354625.2:c.-282+1840C>G
  • NM_001354626.2:c.-284C>G
  • NM_001354627.2:c.-284C>G
  • NM_001354628.2:c.543C>G
  • NM_001354629.2:c.444C>G
  • NM_001354630.2:c.543C>G
  • NP_000240.1:p.Gly181=
  • NP_000240.1:p.Gly181=
  • NP_001161089.1:p.Gly83=
  • NP_001245200.1:p.Gly181=
  • NP_001341549.1:p.Gly83=
  • NP_001341557.1:p.Gly181=
  • NP_001341558.1:p.Gly148=
  • NP_001341559.1:p.Gly181=
  • LRG_216t1:c.543C>G
  • LRG_216:g.20554C>G
  • LRG_216p1:p.Gly181=
  • NC_000003.11:g.37050394C>G
  • NM_000249.3:c.543C>G
Links:
dbSNP: rs1481129490
NCBI 1000 Genomes Browser:
rs1481129490
Molecular consequence:
  • NM_001167618.3:c.-181C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-181C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-181C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-181C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-181C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-181C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-274C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-387C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-387C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-284C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-284C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-284C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-179+1840C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354615.2:c.-179+1840C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354616.2:c.-179+1840C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354625.2:c.-282+1840C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.543C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001167617.3:c.249C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001258271.2:c.543C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354620.2:c.249C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354628.2:c.543C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354629.2:c.444C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354630.2:c.543C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Lynch syndrome
Synonyms:
Familial nonpolyposis colon cancer
Identifiers:
MONDO: MONDO:0005835; MedGen: C4552100; OMIM: PS120435

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000920459International Society for Gastrointestinal Hereditary Tumours (InSiGHT)reviewed by expert panel
Likely pathogenic
(Oct 18, 2018)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Details of each submission

From International Society for Gastrointestinal Hereditary Tumours (InSiGHT), SCV000920459.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Patient RNA and minigene test: skip exon 6 (out of frame), no full length transcript ({PMID26247049:Klift vd et al., 2015})

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

Support Center