NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA AND Hereditary nonpolyposis colorectal neoplasms

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 10, 2023
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:: RCV000232344.8

Allele description [Variation Report for NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA]

NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA

Gene:

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

Variant type:

Insertion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA

HGVS:

NC_000003.12:g.37025629_37025630insTTTTTTTTTTTTTTTTTTTTA
NG_007109.2:g.37280_37281insTTTTTTTTTTTTTTTTTTTTA
NM_000249.4:c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTAMANE SELECT
NM_001167617.3:c.745-8_745-7insTTTTTTTTTTTTTTTTTTTTA
NM_001167618.3:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA
NM_001167619.3:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA
NM_001258271.2:c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA
NM_001258273.2:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA
NM_001258274.3:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354615.2:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354616.2:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354617.2:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354618.2:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354619.2:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354620.2:c.745-8_745-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354621.2:c.16-8_16-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354622.2:c.16-8_16-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354623.2:c.16-8_16-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354624.2:c.-36-8_-36-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354625.2:c.-36-8_-36-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354626.2:c.-36-8_-36-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354627.2:c.-36-8_-36-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354628.2:c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354629.2:c.940-8_940-7insTTTTTTTTTTTTTTTTTTTTA
NM_001354630.2:c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA
LRG_216t1:c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA
LRG_216:g.37280_37281insTTTTTTTTTTTTTTTTTTTTA
NC_000003.11:g.37067120_37067121insTTTTTTTTTTTTTTTTTTTTA
NM_000249.3:c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA

Links:

dbSNP: rs535965616

NCBI 1000 Genomes Browser:

rs535965616

Molecular consequence:

NM_000249.4:c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001167617.3:c.745-8_745-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001167618.3:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001167619.3:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001258271.2:c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001258273.2:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001258274.3:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354615.2:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354616.2:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354617.2:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354618.2:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354619.2:c.316-8_316-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354620.2:c.745-8_745-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354621.2:c.16-8_16-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354622.2:c.16-8_16-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.16-8_16-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354624.2:c.-36-8_-36-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354625.2:c.-36-8_-36-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354626.2:c.-36-8_-36-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354627.2:c.-36-8_-36-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354628.2:c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354629.2:c.940-8_940-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001354630.2:c.1039-8_1039-7insTTTTTTTTTTTTTTTTTTTTA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary nonpolyposis colorectal neoplasms
Identifiers:: MeSH: D003123; MedGen: C0009405

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Homo sapiens elongation factor 1 homolog (ELOF1), transcript variant 1, mRNA
Homo sapiens elongation factor 1 homolog (ELOF1), transcript variant 1, mRNA
gi|85062625|ref|NM_032377.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000284001	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jul 10, 2023)	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

SCV000284001

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jul 10, 2023)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000284001.5

#	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

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