NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) AND Lynch syndrome 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 29, 2017
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:: RCV000490571.4

Allele description [Variation Report for NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)]

NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)

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.191A>G (p.Asn64Ser)

Other names:

p.N64S:AAT>AGT

HGVS:

NC_000003.12:g.36996693A>G
NG_007109.2:g.8344A>G
NG_008418.1:g.1612T>C
NM_000249.4:c.191A>GMANE SELECT
NM_001167617.3:c.-99A>G
NM_001167618.3:c.-533A>G
NM_001167619.3:c.-441A>G
NM_001258271.2:c.191A>G
NM_001258273.2:c.-517+3030A>G
NM_001258274.3:c.-678A>G
NM_001354615.2:c.-436A>G
NM_001354616.2:c.-441A>G
NM_001354617.2:c.-533A>G
NM_001354618.2:c.-533A>G
NM_001354619.2:c.-533A>G
NM_001354620.2:c.-99A>G
NM_001354621.2:c.-626A>G
NM_001354622.2:c.-739A>G
NM_001354623.2:c.-723+2803A>G
NM_001354624.2:c.-636A>G
NM_001354625.2:c.-539A>G
NM_001354626.2:c.-636A>G
NM_001354627.2:c.-636A>G
NM_001354628.2:c.191A>G
NM_001354629.2:c.191A>G
NM_001354630.2:c.191A>G
NP_000240.1:p.Asn64Ser
NP_000240.1:p.Asn64Ser
NP_001245200.1:p.Asn64Ser
NP_001341557.1:p.Asn64Ser
NP_001341558.1:p.Asn64Ser
NP_001341559.1:p.Asn64Ser
LRG_216t1:c.191A>G
LRG_216:g.8344A>G
LRG_216p1:p.Asn64Ser
NC_000003.11:g.37038184A>G
NM_000249.3:c.191A>G
P40692:p.Asn64Ser

Protein change:

N64S

Links:

UniProtKB: P40692#VAR_004438; dbSNP: rs63750952

NCBI 1000 Genomes Browser:

rs63750952

Molecular consequence:

NM_001167617.3:c.-99A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167618.3:c.-533A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001167619.3:c.-441A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258274.3:c.-678A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354615.2:c.-436A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354616.2:c.-441A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354617.2:c.-533A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354618.2:c.-533A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354619.2:c.-533A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354620.2:c.-99A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354621.2:c.-626A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354622.2:c.-739A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354624.2:c.-636A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354625.2:c.-539A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354626.2:c.-636A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354627.2:c.-636A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001258273.2:c.-517+3030A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354623.2:c.-723+2803A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000249.4:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258271.2:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354628.2:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354629.2:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354630.2:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lynch syndrome 1
Synonyms:: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435

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PubChem Substance Links for Gene (Select 285971) (72)
PubChem Substance
LINC02868 long intergenic non-protein coding RNA 2868 [Homo sapiens]
LINC02868 long intergenic non-protein coding RNA 2868 [Homo sapiens]
Gene ID:388667

Gene
homo sapiens[Organism] AND C1orf137 AND (alive[prop]) (1)
Gene
Inga paraensis (1)
Taxonomy
geranyl diphosphate phosphohydrolase [Momordica charantia]
geranyl diphosphate phosphohydrolase [Momordica charantia]
gi|1229791209|ref|XP_022149108.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000611601	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Jun 29, 2017)	unknown	clinical testing	PubMed (7) [See all records that cite these PMIDs] 9311737, 17510385, 21404117, 17210669, 26552419, 17135187, 16736289 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000611601

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Jun 29, 2017)

unknown

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.

Wijnen J, Khan PM, Vasen H, van der Klift H, Mulder A, van Leeuwen-Cornelisse I, Bakker B, Losekoot M, Møller P, Fodde R.

Am J Hum Genet. 1997 Aug;61(2):329-35.

PubMed [citation]

PMID:: 9311737
PMCID:: PMC1715907

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

Takahashi M, Shimodaira H, Andreutti-Zaugg C, Iggo R, Kolodner RD, Ishioka C.

Cancer Res. 2007 May 15;67(10):4595-604.

PubMed [citation]

PMID:: 17510385

See all PubMed Citations (7)

Details of each submission

From Counsyl, SCV000611601.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	clinical testing	PubMed (7)

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

Last Updated: Oct 20, 2024

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