NM_000249.4(MLH1):c.884+16A>G AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Apr 27, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000579749.1

Allele description [Variation Report for NM_000249.4(MLH1):c.884+16A>G]

NM_000249.4(MLH1):c.884+16A>G

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.884+16A>G
HGVS:
  • NC_000003.12:g.37017615A>G
  • NG_007109.2:g.29266A>G
  • NM_000249.3:c.884+16A>G
  • NM_000249.4:c.884+16A>GMANE SELECT
  • NM_001167617.3:c.590+16A>G
  • NM_001167618.3:c.161+16A>G
  • NM_001167619.3:c.161+16A>G
  • NM_001258271.2:c.884+16A>G
  • NM_001258273.2:c.161+16A>G
  • NM_001258274.3:c.161+16A>G
  • NM_001354615.2:c.161+16A>G
  • NM_001354616.2:c.161+16A>G
  • NM_001354617.2:c.161+16A>G
  • NM_001354618.2:c.161+16A>G
  • NM_001354619.2:c.161+16A>G
  • NM_001354620.2:c.590+16A>G
  • NM_001354621.2:c.-139-2695A>G
  • NM_001354622.2:c.-139-2695A>G
  • NM_001354623.2:c.-139-2695A>G
  • NM_001354624.2:c.-37+3071A>G
  • NM_001354625.2:c.-37+3071A>G
  • NM_001354626.2:c.-37+3071A>G
  • NM_001354627.2:c.-37+3071A>G
  • NM_001354628.2:c.884+16A>G
  • NM_001354629.2:c.785+16A>G
  • NM_001354630.2:c.884+16A>G
  • LRG_216t1:c.884+16A>G
  • LRG_216:g.29266A>G
  • NC_000003.11:g.37059106A>G
Links:
dbSNP: rs377598055
NCBI 1000 Genomes Browser:
rs377598055
Molecular consequence:
  • NM_000249.3:c.884+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.884+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167617.3:c.590+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167618.3:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001167619.3:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258271.2:c.884+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258273.2:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258274.3:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354615.2:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354616.2:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354617.2:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354618.2:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354619.2:c.161+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354620.2:c.590+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354621.2:c.-139-2695A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354622.2:c.-139-2695A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-139-2695A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354624.2:c.-37+3071A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354625.2:c.-37+3071A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354626.2:c.-37+3071A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354627.2:c.-37+3071A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354628.2:c.884+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354629.2:c.785+16A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354630.2:c.884+16A>G - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000684878Color Health, Inccriteria provided, single submitter
Likely benign
(Apr 27, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Health, Inc, SCV000684878.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 6, 2021

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