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NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs) AND Lynch syndrome 1

Germline classification:
Likely pathogenic (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:
RCV001093669.1

Allele description [Variation Report for NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs)]

NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs)
HGVS:
  • NC_000003.12:g.37040243_37040246del
  • NG_007109.2:g.51894_51897del
  • NM_000249.4:c.1616_1619delMANE SELECT
  • NM_001167617.3:c.1322_1325del
  • NM_001167618.3:c.893_896del
  • NM_001167619.3:c.893_896del
  • NM_001258271.2:c.1616_1619del
  • NM_001258273.2:c.893_896del
  • NM_001258274.3:c.893_896del
  • NM_001354615.2:c.893_896del
  • NM_001354616.2:c.893_896del
  • NM_001354617.2:c.893_896del
  • NM_001354618.2:c.893_896del
  • NM_001354619.2:c.893_896del
  • NM_001354620.2:c.1322_1325del
  • NM_001354621.2:c.593_596del
  • NM_001354622.2:c.593_596del
  • NM_001354623.2:c.593_596del
  • NM_001354624.2:c.542_545del
  • NM_001354625.2:c.542_545del
  • NM_001354626.2:c.542_545del
  • NM_001354627.2:c.542_545del
  • NM_001354628.2:c.1616_1619del
  • NM_001354629.2:c.1517_1520del
  • NM_001354630.2:c.1616_1619del
  • NP_000240.1:p.Ala539fs
  • NP_001161089.1:p.Ala441fs
  • NP_001161090.1:p.Ala298fs
  • NP_001161091.1:p.Ala298fs
  • NP_001245200.1:p.Ala539fs
  • NP_001245202.1:p.Ala298fs
  • NP_001245203.1:p.Ala298fs
  • NP_001341544.1:p.Ala298fs
  • NP_001341545.1:p.Ala298fs
  • NP_001341546.1:p.Ala298fs
  • NP_001341547.1:p.Ala298fs
  • NP_001341548.1:p.Ala298fs
  • NP_001341549.1:p.Ala441fs
  • NP_001341550.1:p.Ala198fs
  • NP_001341551.1:p.Ala198fs
  • NP_001341552.1:p.Ala198fs
  • NP_001341553.1:p.Ala181fs
  • NP_001341554.1:p.Ala181fs
  • NP_001341555.1:p.Ala181fs
  • NP_001341556.1:p.Ala181fs
  • NP_001341557.1:p.Ala539fs
  • NP_001341558.1:p.Ala506fs
  • NP_001341559.1:p.Ala539fs
  • LRG_216t1:c.1616_1619del
  • LRG_216:g.51894_51897del
  • NC_000003.11:g.37081734_37081737del
  • NM_000249.3:c.1616_1619delCCTT
Protein change:
A181fs
Links:
dbSNP: rs2084645057
NCBI 1000 Genomes Browser:
rs2084645057
Molecular consequence:
  • NM_000249.4:c.1616_1619del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167617.3:c.1322_1325del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167618.3:c.893_896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167619.3:c.893_896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258271.2:c.1616_1619del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258273.2:c.893_896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258274.3:c.893_896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354615.2:c.893_896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354616.2:c.893_896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354617.2:c.893_896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354618.2:c.893_896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354619.2:c.893_896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354620.2:c.1322_1325del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354621.2:c.593_596del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354622.2:c.593_596del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354623.2:c.593_596del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354624.2:c.542_545del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354625.2:c.542_545del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354626.2:c.542_545del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354627.2:c.542_545del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354628.2:c.1616_1619del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354629.2:c.1517_1520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354630.2:c.1616_1619del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001250850Ding PR Lab, Sun Yat-sen University Cancer Center
no assertion criteria provided
Likely pathogenicgermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Ding PR Lab, Sun Yat-sen University Cancer Center, SCV001250850.1

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

Last Updated: Aug 5, 2023