NM_000249.4(MLH1):c.156del (p.Glu53fs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Jun 5, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000213962.2

Allele description [Variation Report for NM_000249.4(MLH1):c.156del (p.Glu53fs)]

NM_000249.4(MLH1):c.156del (p.Glu53fs)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.156del (p.Glu53fs)
HGVS:
  • NC_000003.12:g.36996658del
  • NG_007109.2:g.8309del
  • NG_008418.1:g.1649del
  • NM_000249.4:c.156delMANE SELECT
  • NM_001167617.3:c.-134del
  • NM_001167618.3:c.-568del
  • NM_001167619.3:c.-476del
  • NM_001258271.2:c.156del
  • NM_001258273.2:c.-517+2995del
  • NM_001258274.3:c.-713del
  • NM_001354615.2:c.-471del
  • NM_001354616.2:c.-476del
  • NM_001354617.2:c.-568del
  • NM_001354618.2:c.-568del
  • NM_001354619.2:c.-568del
  • NM_001354620.2:c.-134del
  • NM_001354621.2:c.-661del
  • NM_001354622.2:c.-774del
  • NM_001354623.2:c.-723+2768del
  • NM_001354624.2:c.-671del
  • NM_001354625.2:c.-574del
  • NM_001354626.2:c.-671del
  • NM_001354627.2:c.-671del
  • NM_001354628.2:c.156del
  • NM_001354629.2:c.156del
  • NM_001354630.2:c.156del
  • NP_000240.1:p.Glu53fs
  • NP_001245200.1:p.Glu53fs
  • NP_001341557.1:p.Glu53fs
  • NP_001341558.1:p.Glu53fs
  • NP_001341559.1:p.Glu53fs
  • LRG_216:g.8309del
  • NC_000003.11:g.37038147del
  • NC_000003.11:g.37038149del
  • NM_000249.3:c.156delA
  • p.Glu53Argfs*4
  • p.Glu53ArgfsTer4
Protein change:
E53fs
Links:
dbSNP: rs63750028
NCBI 1000 Genomes Browser:
rs63750028
Molecular consequence:
  • NM_001167617.3:c.-134del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-568del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-476del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-713del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-471del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-476del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-568del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-568del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-568del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-134del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-661del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-774del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-671del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-574del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-671del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-671del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.156del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258271.2:c.156del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354628.2:c.156del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354629.2:c.156del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354630.2:c.156del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258273.2:c.-517+2995del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-723+2768del - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
Unknown function
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000276778Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jun 5, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000276778.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.156delA pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 156, causing a translational frameshift with a predicted alternate stop codon (p.E53Rfs*4). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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