NM_000249.4(MLH1):c.551C>G (p.Ser184Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 18, 2021
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:: RCV002350171.2

Allele description [Variation Report for NM_000249.4(MLH1):c.551C>G (p.Ser184Ter)]

NM_000249.4(MLH1):c.551C>G (p.Ser184Ter)

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.551C>G (p.Ser184Ter)

HGVS:

NC_000003.12:g.37011825C>G
NG_007109.2:g.23476C>G
NM_000249.4:c.551C>GMANE SELECT
NM_001167617.3:c.257C>G
NM_001167618.3:c.-173C>G
NM_001167619.3:c.-173C>G
NM_001258271.2:c.551C>G
NM_001258273.2:c.-173C>G
NM_001258274.3:c.-173C>G
NM_001354615.2:c.-173C>G
NM_001354616.2:c.-173C>G
NM_001354617.2:c.-173C>G
NM_001354618.2:c.-173C>G
NM_001354619.2:c.-173C>G
NM_001354620.2:c.257C>G
NM_001354621.2:c.-266C>G
NM_001354622.2:c.-379C>G
NM_001354623.2:c.-379C>G
NM_001354624.2:c.-276C>G
NM_001354625.2:c.-276C>G
NM_001354626.2:c.-276C>G
NM_001354627.2:c.-276C>G
NM_001354628.2:c.551C>G
NM_001354629.2:c.452C>G
NM_001354630.2:c.551C>G
NP_000240.1:p.Ser184Ter
NP_000240.1:p.Ser184Ter
NP_001161089.1:p.Ser86Ter
NP_001245200.1:p.Ser184Ter
NP_001341549.1:p.Ser86Ter
NP_001341557.1:p.Ser184Ter
NP_001341558.1:p.Ser151Ter
NP_001341559.1:p.Ser184Ter
LRG_216t1:c.551C>G
LRG_216:g.23476C>G
LRG_216p1:p.Ser184Ter
NC_000003.11:g.37053316C>G
NM_000249.3:c.551C>G

Protein change:

S151*

Links:

dbSNP: rs1064796057

NCBI 1000 Genomes Browser:

rs1064796057

Molecular consequence:

NM_001167618.3:c.-173C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-173C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258273.2:c.-173C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-173C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-173C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-173C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-173C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-173C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-173C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-266C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-379C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354623.2:c.-379C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-276C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-276C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-276C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-276C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.551C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001167617.3:c.257C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001258271.2:c.551C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354620.2:c.257C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354628.2:c.551C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354629.2:c.452C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001354630.2:c.551C>G - nonsense - [Sequence Ontology: SO:0001587]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002653568	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 18, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002653568

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 18, 2021)

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, SCV002653568.2

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

Description

The p.S184* pathogenic mutation (also known as c.551C>G), located in coding exon 7 of the MLH1 gene, results from a C to G substitution at nucleotide position 551. This changes the amino acid from a serine to a stop codon within coding exon 7. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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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