NM_000249.3(MLH1):c.-227A>G AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 28, 2018
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:: RCV001015035.12

Allele description [Variation Report for NM_000249.3(MLH1):c.-227A>G]

NM_000249.3(MLH1):c.-227A>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.3(MLH1):c.-227A>G

HGVS:

NC_000003.12:g.36993321A>G
NG_007109.2:g.4972A>G
NG_008418.1:g.4984T>C
LRG_216t1:c.-227A>G
LRG_216:g.4972A>G
NC_000003.11:g.37034812A>G
NM_000249.3:c.-227A>G

Links:

dbSNP: rs1575373407

NCBI 1000 Genomes Browser:

rs1575373407

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

Recent activity

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MAG: Halodesulfovibrio sp. isolate McLGI.35, whole genome shotgun sequencing pro...
MAG: Halodesulfovibrio sp. isolate McLGI.35, whole genome shotgun sequencing project
gi|2302519492|gb|JAOASH000000000.1| H010000000

Nucleotide
MAG: Marinisporobacter sp. isolate McD2.5, whole genome shotgun sequencing proje...
MAG: Marinisporobacter sp. isolate McD2.5, whole genome shotgun sequencing project
gi|2302519568|gb|JAOARV000000000.1| V010000000

Nucleotide
long-chain-fatty-acid--CoA ligase 1 isoform X2 [Rattus norvegicus]
long-chain-fatty-acid--CoA ligase 1 isoform X2 [Rattus norvegicus]
gi|2678902099|ref|XP_063131129.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001175819	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 28, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001175819

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 28, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001175819.4

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

Description

The c.-227A>G variant is located in the 5' untranslated region (5’ UTR) of the MLH1 gene. This variant results from an A to G substitution 227 bases upstream from the first translated codon. This nucleotide position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Nov 10, 2024

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