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NM_000249.4(MLH1):c.59CGG[1] (p.Ala21del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 2, 2020
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:
RCV002366451.2

Allele description [Variation Report for NM_000249.4(MLH1):c.59CGG[1] (p.Ala21del)]

NM_000249.4(MLH1):c.59CGG[1] (p.Ala21del)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.59CGG[1] (p.Ala21del)
HGVS:
  • NC_000003.12:g.36993606CGG[1]
  • NG_007109.2:g.5257CGG[1]
  • NG_008418.1:g.4695CGC[1]
  • NG_099042.1:g.1_4=
  • NM_000249.4:c.59CGG[1]MANE SELECT
  • NM_001167617.3:c.-458CGG[1]
  • NM_001167618.3:c.-887CGG[1]
  • NM_001167619.3:c.-800CGG[1]
  • NM_001258271.2:c.59CGG[1]
  • NM_001258273.2:c.-574CGG[1]
  • NM_001258274.3:c.-1037CGG[1]
  • NM_001354615.2:c.-568CGG[1]
  • NM_001354616.2:c.-568CGG[1]
  • NM_001354617.2:c.-660CGG[1]
  • NM_001354618.2:c.-892CGG[1]
  • NM_001354619.2:c.-1016CGG[1]
  • NM_001354620.2:c.-226CGG[1]
  • NM_001354621.2:c.-985CGG[1]
  • NM_001354622.2:c.-1098CGG[1]
  • NM_001354623.2:c.-1007CGG[1]
  • NM_001354624.2:c.-768CGG[1]
  • NM_001354625.2:c.-666CGG[1]
  • NM_001354626.2:c.-763CGG[1]
  • NM_001354627.2:c.-995CGG[1]
  • NM_001354628.2:c.59CGG[1]
  • NM_001354629.2:c.59CGG[1]
  • NM_001354630.2:c.59CGG[1]
  • NP_000240.1:p.Ala21del
  • NP_000240.1:p.Ala21del
  • NP_001245200.1:p.Ala21del
  • NP_001341557.1:p.Ala21del
  • NP_001341558.1:p.Ala21del
  • NP_001341559.1:p.Ala21del
  • LRG_216t1:c.59_61CGG[1]
  • LRG_216:g.5257CGG[1]
  • LRG_216p1:p.Ala21del
  • NC_000003.11:g.37035097CGG[1]
  • NM_000249.3:c.59_61CGG[1]
  • NM_000249.3:c.62_64delCGG
Protein change:
A21del
Molecular consequence:
  • NM_001167617.3:c.-458CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-887CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-800CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-574CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-1037CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-568CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-568CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-660CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-892CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-1016CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-226CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-985CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-1098CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-1007CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-768CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-666CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-763CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-995CGG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.59CGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001258271.2:c.59CGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354628.2:c.59CGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354629.2:c.59CGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354630.2:c.59CGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002656962Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Jan 2, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002656962.2

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

Description

The c.62_64delCGG variant (also known as p.A21del) is located in coding exon 1 of the MLH1 gene. This variant results from an in-frame CGG deletion at nucleotide positions 62 to 64. This results in the in-frame deletion of an alanine at codon 21. The nucleotide positions are well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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: May 1, 2024