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NM_000249.4(MLH1):c.640del (p.Asp214fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 23, 2017
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:
RCV000657346.1

Allele description [Variation Report for NM_000249.4(MLH1):c.640del (p.Asp214fs)]

NM_000249.4(MLH1):c.640del (p.Asp214fs)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.640del (p.Asp214fs)
HGVS:
  • NC_000003.12:g.37012062del
  • NG_007109.2:g.23713del
  • NM_000249.4:c.640delMANE SELECT
  • NM_001167617.3:c.346del
  • NM_001167618.3:c.-84del
  • NM_001167619.3:c.-84del
  • NM_001258271.2:c.640del
  • NM_001258273.2:c.-84del
  • NM_001258274.3:c.-84del
  • NM_001354615.2:c.-84del
  • NM_001354616.2:c.-84del
  • NM_001354617.2:c.-84del
  • NM_001354618.2:c.-84del
  • NM_001354619.2:c.-84del
  • NM_001354620.2:c.346del
  • NM_001354621.2:c.-177del
  • NM_001354622.2:c.-290del
  • NM_001354623.2:c.-290del
  • NM_001354624.2:c.-187del
  • NM_001354625.2:c.-187del
  • NM_001354626.2:c.-187del
  • NM_001354627.2:c.-187del
  • NM_001354628.2:c.640del
  • NM_001354629.2:c.541del
  • NM_001354630.2:c.640del
  • NP_000240.1:p.Asp214fs
  • NP_001161089.1:p.Asp116fs
  • NP_001245200.1:p.Asp214fs
  • NP_001341549.1:p.Asp116fs
  • NP_001341557.1:p.Asp214fs
  • NP_001341558.1:p.Asp181fs
  • NP_001341559.1:p.Asp214fs
  • LRG_216:g.23713del
  • NC_000003.11:g.37053553del
  • NM_000249.3:c.640delG
Protein change:
D116fs
Links:
dbSNP: rs1553644194
NCBI 1000 Genomes Browser:
rs1553644194
Molecular consequence:
  • NM_001167618.3:c.-84del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-84del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-84del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-84del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-84del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-84del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-84del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-84del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-84del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-177del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-290del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-290del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-187del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-187del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-187del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-187del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167617.3:c.346del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258271.2:c.640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354620.2:c.346del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354628.2:c.640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354629.2:c.541del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354630.2:c.640del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000779078GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Pathogenic
(Jun 23, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000779078.2

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

Description

This deletion of one nucleotide in MLH1 is denoted c.640delG at the cDNA level and p.Asp214ThrfsX15 (D214TfsX15) at the protein level. The normal sequence, with the base that is deleted in brackets, is CGTG[delG]ACAA. The deletion causes a frameshift, which changes an Aspartic Acid to a Threonine at codon 214 and creates a premature stop codon at position 15 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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

Last Updated: Nov 5, 2022