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NM_000249.4(MLH1):c.4T>G (p.Ser2Ala) AND Lynch syndrome 1

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001093665.1

Allele description [Variation Report for NM_000249.4(MLH1):c.4T>G (p.Ser2Ala)]

NM_000249.4(MLH1):c.4T>G (p.Ser2Ala)

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.4T>G (p.Ser2Ala)
HGVS:
  • NC_000003.12:g.36993551T>G
  • NG_007109.2:g.5202T>G
  • NG_008418.1:g.4754A>C
  • NM_000249.4:c.4T>GMANE SELECT
  • NM_001167617.3:c.-513T>G
  • NM_001167618.3:c.-942T>G
  • NM_001167619.3:c.-855T>G
  • NM_001258271.2:c.4T>G
  • NM_001258273.2:c.-629T>G
  • NM_001258274.3:c.-1092T>G
  • NM_001354615.2:c.-623T>G
  • NM_001354616.2:c.-623T>G
  • NM_001354617.2:c.-715T>G
  • NM_001354618.2:c.-947T>G
  • NM_001354619.2:c.-1071T>G
  • NM_001354620.2:c.-281T>G
  • NM_001354621.2:c.-1040T>G
  • NM_001354622.2:c.-1153T>G
  • NM_001354623.2:c.-1062T>G
  • NM_001354624.2:c.-823T>G
  • NM_001354625.2:c.-721T>G
  • NM_001354626.2:c.-818T>G
  • NM_001354627.2:c.-1050T>G
  • NM_001354628.2:c.4T>G
  • NM_001354629.2:c.4T>G
  • NM_001354630.2:c.4T>G
  • NP_000240.1:p.Ser2Ala
  • NP_001245200.1:p.Ser2Ala
  • NP_001341557.1:p.Ser2Ala
  • NP_001341558.1:p.Ser2Ala
  • NP_001341559.1:p.Ser2Ala
  • LRG_216t1:c.4T>G
  • LRG_216:g.5202T>G
  • NC_000003.11:g.37035042T>G
  • NM_000249.3:c.4T>G
Protein change:
S2A
Links:
dbSNP: rs1448308275
NCBI 1000 Genomes Browser:
rs1448308275
Molecular consequence:
  • NM_001167617.3:c.-513T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-942T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-855T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-629T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-1092T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-623T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-623T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-715T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-947T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-1071T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-281T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-1040T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-1153T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354623.2:c.-1062T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-823T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-721T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-818T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-1050T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.4:c.4T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.4T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.4T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.4T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.4T>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001250846Ding PR Lab, Sun Yat-sen University Cancer Center
no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ding PR Lab, Sun Yat-sen University Cancer Center, SCV001250846.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024