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NM_000249.4(MLH1):c.120A>C (p.Leu40Phe) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 17, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001010294.3

Allele description [Variation Report for NM_000249.4(MLH1):c.120A>C (p.Leu40Phe)]

NM_000249.4(MLH1):c.120A>C (p.Leu40Phe)

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.120A>C (p.Leu40Phe)
HGVS:
  • NC_000003.12:g.36996622A>C
  • NG_007109.2:g.8273A>C
  • NG_008418.1:g.1683T>G
  • NM_000249.4:c.120A>CMANE SELECT
  • NM_001167617.3:c.-170A>C
  • NM_001167618.3:c.-602-2A>C
  • NM_001167619.3:c.-512A>C
  • NM_001258271.2:c.120A>C
  • NM_001258273.2:c.-517+2959A>C
  • NM_001258274.3:c.-749A>C
  • NM_001354615.2:c.-507A>C
  • NM_001354616.2:c.-510-2A>C
  • NM_001354617.2:c.-602-2A>C
  • NM_001354618.2:c.-604A>C
  • NM_001354619.2:c.-604A>C
  • NM_001354620.2:c.-168-2A>C
  • NM_001354621.2:c.-697A>C
  • NM_001354622.2:c.-810A>C
  • NM_001354623.2:c.-723+2732A>C
  • NM_001354624.2:c.-707A>C
  • NM_001354625.2:c.-608-2A>C
  • NM_001354626.2:c.-705-2A>C
  • NM_001354627.2:c.-707A>C
  • NM_001354628.2:c.120A>C
  • NM_001354629.2:c.120A>C
  • NM_001354630.2:c.120A>C
  • NP_000240.1:p.Leu40Phe
  • NP_000240.1:p.Leu40Phe
  • NP_001245200.1:p.Leu40Phe
  • NP_001341557.1:p.Leu40Phe
  • NP_001341558.1:p.Leu40Phe
  • NP_001341559.1:p.Leu40Phe
  • LRG_216t1:c.120A>C
  • LRG_216:g.8273A>C
  • LRG_216p1:p.Leu40Phe
  • NC_000003.11:g.37038113A>C
  • NM_000249.3:c.120A>C
Protein change:
L40F
Links:
dbSNP: rs1575394679
NCBI 1000 Genomes Browser:
rs1575394679
Molecular consequence:
  • NM_001167617.3:c.-170A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-512A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-749A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-507A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-604A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-604A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-697A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-810A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-707A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-707A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-517+2959A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-723+2732A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.120A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.120A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.120A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.120A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.120A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167618.3:c.-602-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354616.2:c.-510-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354617.2:c.-602-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354620.2:c.-168-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354625.2:c.-608-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354626.2:c.-705-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001170468Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 17, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV001170468.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.L40F variant (also known as c.120A>C), located in coding exon 2 of the MLH1 gene, results from an A to C substitution at nucleotide position 120. The leucine at codon 40 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024