NM_000249.4(MLH1):c.45G>C (p.Val15=) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jul 9, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000507414.4

Allele description [Variation Report for NM_000249.4(MLH1):c.45G>C (p.Val15=)]

NM_000249.4(MLH1):c.45G>C (p.Val15=)

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.45G>C (p.Val15=)

HGVS:

NC_000003.12:g.36993592G>C
NG_007109.2:g.5243G>C
NG_008418.1:g.4713C>G
NM_000249.4:c.45G>CMANE SELECT
NM_001167617.3:c.-472G>C
NM_001167618.3:c.-901G>C
NM_001167619.3:c.-814G>C
NM_001258271.2:c.45G>C
NM_001258273.2:c.-588G>C
NM_001258274.3:c.-1051G>C
NM_001354615.2:c.-582G>C
NM_001354616.2:c.-582G>C
NM_001354617.2:c.-674G>C
NM_001354618.2:c.-906G>C
NM_001354619.2:c.-1030G>C
NM_001354620.2:c.-240G>C
NM_001354621.2:c.-999G>C
NM_001354622.2:c.-1112G>C
NM_001354623.2:c.-1021G>C
NM_001354624.2:c.-782G>C
NM_001354625.2:c.-680G>C
NM_001354626.2:c.-777G>C
NM_001354627.2:c.-1009G>C
NM_001354628.2:c.45G>C
NM_001354629.2:c.45G>C
NM_001354630.2:c.45G>C
NP_000240.1:p.Val15=
NP_000240.1:p.Val15=
NP_001245200.1:p.Val15=
NP_001341557.1:p.Val15=
NP_001341558.1:p.Val15=
NP_001341559.1:p.Val15=
LRG_216t1:c.45G>C
LRG_216:g.5243G>C
LRG_216p1:p.Val15=
NC_000003.11:g.37035083G>C
NM_000249.3:c.45G>C
p.Val15Val

Links:

dbSNP: rs768409958

NCBI 1000 Genomes Browser:

rs768409958

Molecular consequence:

NM_001167617.3:c.-472G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-901G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-814G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258273.2:c.-588G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-1051G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-582G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-582G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-674G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-906G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-1030G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-240G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-999G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-1112G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354623.2:c.-1021G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-782G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-680G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-777G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-1009G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000249.4:c.45G>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001258271.2:c.45G>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354628.2:c.45G>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354629.2:c.45G>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354630.2:c.45G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000601402	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (May 24, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001774493	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Jul 9, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000601402

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(May 24, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001774493

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Jul 9, 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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601402.2

#	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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001774493.1

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

#	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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