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NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) AND Lynch-like syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2019
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:
RCV001250014.1

Allele description [Variation Report for NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)]

NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)
HGVS:
  • NC_000003.12:g.37047559_37047562del
  • NG_007109.2:g.59210_59213del
  • NM_000249.4:c.1772_1775delMANE SELECT
  • NM_001167617.3:c.1478_1481del
  • NM_001167618.3:c.1049_1052del
  • NM_001167619.3:c.1049_1052del
  • NM_001258271.2:c.1772_1775del
  • NM_001258273.2:c.1049_1052del
  • NM_001258274.3:c.1049_1052del
  • NM_001354615.2:c.1049_1052del
  • NM_001354616.2:c.1049_1052del
  • NM_001354617.2:c.1049_1052del
  • NM_001354618.2:c.1049_1052del
  • NM_001354619.2:c.1049_1052del
  • NM_001354620.2:c.1478_1481del
  • NM_001354621.2:c.749_752del
  • NM_001354622.2:c.749_752del
  • NM_001354623.2:c.749_752del
  • NM_001354624.2:c.698_701del
  • NM_001354625.2:c.698_701del
  • NM_001354626.2:c.698_701del
  • NM_001354627.2:c.698_701del
  • NM_001354628.2:c.1772_1775del
  • NM_001354629.2:c.1673_1676del
  • NM_001354630.2:c.1732-958_1732-955del
  • NP_000240.1:p.Asp591fs
  • NP_001161089.1:p.Asp493fs
  • NP_001161090.1:p.Asp350fs
  • NP_001161091.1:p.Asp350fs
  • NP_001245200.1:p.Asp591fs
  • NP_001245202.1:p.Asp350fs
  • NP_001245203.1:p.Asp350fs
  • NP_001341544.1:p.Asp350fs
  • NP_001341545.1:p.Asp350fs
  • NP_001341546.1:p.Asp350fs
  • NP_001341547.1:p.Asp350fs
  • NP_001341548.1:p.Asp350fs
  • NP_001341549.1:p.Asp493fs
  • NP_001341550.1:p.Asp250fs
  • NP_001341551.1:p.Asp250fs
  • NP_001341552.1:p.Asp250fs
  • NP_001341553.1:p.Asp233fs
  • NP_001341554.1:p.Asp233fs
  • NP_001341555.1:p.Asp233fs
  • NP_001341556.1:p.Asp233fs
  • NP_001341557.1:p.Asp591fs
  • NP_001341558.1:p.Asp558fs
  • LRG_216:g.59210_59213del
  • NC_000003.11:g.37089047_37089050del
  • NC_000003.11:g.37089050_37089053del
  • NM_000249.3:c.1772_1775delATAG
  • NM_000249.4:c.1772_1775del
  • p.Asp591Valfs*24
Protein change:
D233fs
Links:
dbSNP: rs63749868
NCBI 1000 Genomes Browser:
rs63749868
Molecular consequence:
  • NM_000249.4:c.1772_1775del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167617.3:c.1478_1481del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167618.3:c.1049_1052del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001167619.3:c.1049_1052del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258271.2:c.1772_1775del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258273.2:c.1049_1052del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258274.3:c.1049_1052del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354615.2:c.1049_1052del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354616.2:c.1049_1052del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354617.2:c.1049_1052del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354618.2:c.1049_1052del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354619.2:c.1049_1052del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354620.2:c.1478_1481del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354621.2:c.749_752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354622.2:c.749_752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354623.2:c.749_752del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354624.2:c.698_701del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354625.2:c.698_701del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354626.2:c.698_701del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354627.2:c.698_701del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354628.2:c.1772_1775del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354629.2:c.1673_1676del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354630.2:c.1732-958_1732-955del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Lynch-like syndrome
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423915Constitutional Genetics Lab, Leon Berard Cancer Center
no assertion criteria provided
Pathogenic
(Jul 1, 2019) 		somaticclinical testing

Help

Summary from all submissions

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

Details of each submission

From Constitutional Genetics Lab, Leon Berard Cancer Center, SCV001423915.1

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

Last Updated: Sep 29, 2024