NM_000249.4(MLH1):c.546-16del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Oct 4, 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:: RCV000679276.5

Allele description [Variation Report for NM_000249.4(MLH1):c.546-16del]

NM_000249.4(MLH1):c.546-16del

Gene:

MLH1:mutL homolog 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.546-16del

HGVS:

NC_000003.12:g.37011804del
NG_007109.2:g.23455del
NM_000249.4:c.546-16delMANE SELECT
NM_001167617.3:c.252-16del
NM_001167618.3:c.-178-16del
NM_001167619.3:c.-178-16del
NM_001258271.2:c.546-16del
NM_001258273.2:c.-178-16del
NM_001258274.3:c.-178-16del
NM_001354615.2:c.-178-16del
NM_001354616.2:c.-178-16del
NM_001354617.2:c.-178-16del
NM_001354618.2:c.-178-16del
NM_001354619.2:c.-178-16del
NM_001354620.2:c.252-16del
NM_001354621.2:c.-271-16del
NM_001354622.2:c.-384-16del
NM_001354623.2:c.-384-16del
NM_001354624.2:c.-281-16del
NM_001354625.2:c.-281-16del
NM_001354626.2:c.-281-16del
NM_001354627.2:c.-281-16del
NM_001354628.2:c.546-16del
NM_001354629.2:c.447-16del
NM_001354630.2:c.546-16del
LRG_216:g.23455del
NC_000003.11:g.37053292del
NC_000003.11:g.37053295del
NM_000249.3:c.546-16delT

Links:

dbSNP: rs1559529693

NCBI 1000 Genomes Browser:

rs1559529693

Molecular consequence:

NM_000249.4:c.546-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001167617.3:c.252-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001167618.3:c.-178-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001167619.3:c.-178-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258271.2:c.546-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258273.2:c.-178-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001258274.3:c.-178-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354615.2:c.-178-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354616.2:c.-178-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354617.2:c.-178-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354618.2:c.-178-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354619.2:c.-178-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354620.2:c.252-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354621.2:c.-271-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354622.2:c.-384-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.-384-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354624.2:c.-281-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354625.2:c.-281-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354626.2:c.-281-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354627.2:c.-281-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354628.2:c.546-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354629.2:c.447-16del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354630.2:c.546-16del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

hypothetical protein CNMCM5878_009515 [Aspergillus fumigatiaffinis]
hypothetical protein CNMCM5878_009515 [Aspergillus fumigatiaffinis]
gi|1834036105|gb|KAF4214284.1||gnl| AAAPV|cds.NODE_80_length_146260_cov_27.2.g5881.t1

Protein
Tetraspanin 29
Tetraspanin 29
A subtype of tetraspanin protein that plays a role in cell adhesion, cell motility, and tumor metastasis. It functions in platelet activation and aggregation, the formation of...<br/>Year introduced: 2019 (1988)

MeSH
GPI-Linked Proteins
GPI-Linked Proteins
A subclass of lipid-linked proteins that contain a GLYCOSYLPHOSPHATIDYLINOSITOL LINKAGE which holds them to the CELL MEMBRANE.<br/>Year introduced: 2011

MeSH
Granulocyte-Macrophage Colony-Stimulating Factor
Granulocyte-Macrophage Colony-Stimulating Factor
An acidic glycoprotein of MW 23 kDa with internal disulfide bonds. The protein is produced in response to a number of inflammatory mediators by mesenchymal cells present in th...<br/>Year introduced: 1991

MeSH
Fibrillins
Fibrillins
A family of extracellular matrix glycoproteins that is structurally similar to LATENT TGF-BETA BINDING PROTEINS, but contain additional TGF-beta binding domains, in addition t...<br/>Year introduced: 2017

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000805974	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Oct 4, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000805974

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Oct 4, 2017)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 PreventionGenetics, part of Exact Sciences, SCV000805974.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine