NM_000249.4(MLH1):c.1039-8dup AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 1, 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:: RCV003438989.10

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

NM_000249.4(MLH1):c.1039-8dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.1039-8dup

HGVS:

NC_000003.12:g.37025629dup
NG_007109.2:g.37280dup
NM_000249.3:c.1039-8dup
NM_000249.4:c.1039-8dupMANE SELECT
NM_001167617.3:c.745-8dup
NM_001167618.3:c.316-8dup
NM_001167619.3:c.316-8dup
NM_001258271.2:c.1039-8dup
NM_001258273.2:c.316-8dup
NM_001258274.3:c.316-8dup
NM_001354615.2:c.316-8dup
NM_001354616.2:c.316-8dup
NM_001354617.2:c.316-8dup
NM_001354618.2:c.316-8dup
NM_001354619.2:c.316-8dup
NM_001354620.2:c.745-8dup
NM_001354621.2:c.16-8dup
NM_001354622.2:c.16-8dup
NM_001354623.2:c.16-8dup
NM_001354624.2:c.-36-8dup
NM_001354625.2:c.-36-8dup
NM_001354626.2:c.-36-8dup
NM_001354627.2:c.-36-8dup
NM_001354628.2:c.1039-8dup
NM_001354629.2:c.940-8dup
NM_001354630.2:c.1039-8dup
LRG_216t1:c.1039-8dup
LRG_216:g.37280dup
NC_000003.11:g.37067120dup
NM_000249.4:c.1039-8dupTMANE SELECT

Links:

dbSNP: rs57509953

NCBI 1000 Genomes Browser:

rs57509953

Molecular consequence:

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

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

minor ampullate spidroin [Araneus ventricosus]
minor ampullate spidroin [Araneus ventricosus]
gi|409194649|gb|AFV31615.1|

Protein
collagen alpha-1(XIII) chain isoform X22 [Mus musculus]
collagen alpha-1(XIII) chain isoform X22 [Mus musculus]
gi|1907073243|ref|XP_036011464.1|

Protein
collagen alpha-1(XIII) chain isoform X2 [Mus musculus]
collagen alpha-1(XIII) chain isoform X2 [Mus musculus]
gi|755534003|ref|XP_011241625.1|

Protein
collagen alpha-1(XIII) chain isoform 2 [Mus musculus]
collagen alpha-1(XIII) chain isoform 2 [Mus musculus]
gi|755571595|ref|NP_001291686.1|

Protein
PREDICTED: Mus musculus collagen, type XIII, alpha 1 (Col13a1), transcript varia...
PREDICTED: Mus musculus collagen, type XIII, alpha 1 (Col13a1), transcript variant X7, mRNA
gi|1907073227|ref|XM_011243328.3|

Nucleotide

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
SCV004149362	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jun 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004149362

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jun 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004149362.10

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

Description

MLH1: BP4, BS2

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

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine