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NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) AND Lynch syndrome 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 24, 2014
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:
RCV000144600.9

Allele description [Variation Report for NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)]

NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
HGVS:
  • NC_000003.12:g.37047639_37047640delinsGC
  • NG_007109.2:g.59290_59291delinsGC
  • NM_000249.4:c.1852_1853delinsGCMANE SELECT
  • NM_001167617.3:c.1558_1559delinsGC
  • NM_001167618.3:c.1129_1130delinsGC
  • NM_001167619.3:c.1129_1130delinsGC
  • NM_001258271.2:c.1852_1853delinsGC
  • NM_001258273.2:c.1129_1130delinsGC
  • NM_001258274.3:c.1129_1130delinsGC
  • NM_001354615.2:c.1129_1130delinsGC
  • NM_001354616.2:c.1129_1130delinsGC
  • NM_001354617.2:c.1129_1130delinsGC
  • NM_001354618.2:c.1129_1130delinsGC
  • NM_001354619.2:c.1129_1130delinsGC
  • NM_001354620.2:c.1558_1559delinsGC
  • NM_001354621.2:c.829_830delinsGC
  • NM_001354622.2:c.829_830delinsGC
  • NM_001354623.2:c.829_830delinsGC
  • NM_001354624.2:c.778_779delinsGC
  • NM_001354625.2:c.778_779delinsGC
  • NM_001354626.2:c.778_779delinsGC
  • NM_001354627.2:c.778_779delinsGC
  • NM_001354628.2:c.1852_1853delinsGC
  • NM_001354629.2:c.1753_1754delinsGC
  • NM_001354630.2:c.1732-878_1732-877delinsGC
  • NP_000240.1:p.Lys618Ala
  • NP_001161089.1:p.Lys520Ala
  • NP_001161090.1:p.Lys377Ala
  • NP_001161091.1:p.Lys377Ala
  • NP_001245200.1:p.Lys618Ala
  • NP_001245202.1:p.Lys377Ala
  • NP_001245203.1:p.Lys377Ala
  • NP_001341544.1:p.Lys377Ala
  • NP_001341545.1:p.Lys377Ala
  • NP_001341546.1:p.Lys377Ala
  • NP_001341547.1:p.Lys377Ala
  • NP_001341548.1:p.Lys377Ala
  • NP_001341549.1:p.Lys520Ala
  • NP_001341550.1:p.Lys277Ala
  • NP_001341551.1:p.Lys277Ala
  • NP_001341552.1:p.Lys277Ala
  • NP_001341553.1:p.Lys260Ala
  • NP_001341554.1:p.Lys260Ala
  • NP_001341555.1:p.Lys260Ala
  • NP_001341556.1:p.Lys260Ala
  • NP_001341557.1:p.Lys618Ala
  • NP_001341558.1:p.Lys585Ala
  • LRG_216:g.59290_59291delinsGC
  • NC_000003.11:g.37089130_37089131delinsGC
  • NM_000249.3:c.1852_1853delAAinsGC
  • NM_000249.4:c.1852_1853delinsGC
  • NM_001354630.1:c.1732-878_1732-877delinsGC
  • p.K618A
Protein change:
K260A; LYS618ALA
Links:
OMIM: 120436.0012; dbSNP: rs35502531
NCBI 1000 Genomes Browser:
rs35502531
Molecular consequence:
  • NM_001354630.2:c.1732-878_1732-877delinsGC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.1852_1853delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167617.3:c.1558_1559delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167618.3:c.1129_1130delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167619.3:c.1129_1130delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.1852_1853delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258273.2:c.1129_1130delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258274.3:c.1129_1130delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354615.2:c.1129_1130delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354616.2:c.1129_1130delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354617.2:c.1129_1130delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354618.2:c.1129_1130delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354619.2:c.1129_1130delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354620.2:c.1558_1559delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354621.2:c.829_830delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354622.2:c.829_830delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354623.2:c.829_830delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354624.2:c.778_779delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354625.2:c.778_779delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354626.2:c.778_779delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354627.2:c.778_779delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.1852_1853delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.1753_1754delinsGC - 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
SCV000189927Pathway Genomics
no assertion criteria provided
Likely benign
(Jul 24, 2014) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Pathway Genomics, SCV000189927.1

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

Last Updated: Oct 13, 2024