NM_000249.4(MLH1):c.673dup (p.Ser225fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 23, 2020
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:: RCV001507619.5

Allele description [Variation Report for NM_000249.4(MLH1):c.673dup (p.Ser225fs)]

NM_000249.4(MLH1):c.673dup (p.Ser225fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000249.4(MLH1):c.673dup (p.Ser225fs)

HGVS:

NC_000003.12:g.37012095dup
NG_007109.2:g.23746dup
NM_000249.4:c.673dupMANE SELECT
NM_001167617.3:c.379dup
NM_001167618.3:c.-51dup
NM_001167619.3:c.-51dup
NM_001258271.2:c.673dup
NM_001258273.2:c.-51dup
NM_001258274.3:c.-51dup
NM_001354615.2:c.-51dup
NM_001354616.2:c.-51dup
NM_001354617.2:c.-51dup
NM_001354618.2:c.-51dup
NM_001354619.2:c.-51dup
NM_001354620.2:c.379dup
NM_001354621.2:c.-144dup
NM_001354622.2:c.-257dup
NM_001354623.2:c.-257dup
NM_001354624.2:c.-154dup
NM_001354625.2:c.-154dup
NM_001354626.2:c.-154dup
NM_001354627.2:c.-154dup
NM_001354628.2:c.673dup
NM_001354629.2:c.574dup
NM_001354630.2:c.673dup
NP_000240.1:p.Ser225fs
NP_001161089.1:p.Ser127fs
NP_001245200.1:p.Ser225fs
NP_001341549.1:p.Ser127fs
NP_001341557.1:p.Ser225fs
NP_001341558.1:p.Ser192fs
NP_001341559.1:p.Ser225fs
LRG_216t1:c.673dup
LRG_216:g.23746dup
NC_000003.11:g.37053585_37053586insA
NC_000003.11:g.37053586dup
NM_000249.3:c.673dupA
p.Ser225Lysfs*10

Protein change:

S127fs

Links:

dbSNP: rs1575469505

NCBI 1000 Genomes Browser:

rs1575469505

Molecular consequence:

NM_001167618.3:c.-51dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-51dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258273.2:c.-51dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-51dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-51dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-51dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-51dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-51dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-51dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-144dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-257dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354623.2:c.-257dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-154dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-154dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-154dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-154dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.673dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001167617.3:c.379dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258271.2:c.673dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354620.2:c.379dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354628.2:c.673dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354629.2:c.574dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354630.2:c.673dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001713274	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 23, 2020)	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

SCV001713274

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 23, 2020)

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	1	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 Mayo Clinic Laboratories, Mayo Clinic, SCV001713274.1

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

Description

PVS1, PM2

#	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		1	not provided	not provided	not provided

Last Updated: May 1, 2024

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