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NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter) AND Colorectal cancer, hereditary nonpolyposis, type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 25, 2023
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:
RCV003451118.1

Allele description [Variation Report for NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter)]

NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter)

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.2250C>A (p.Tyr750Ter)
HGVS:
  • NC_000003.12:g.37050632C>A
  • NG_007109.2:g.62283C>A
  • NG_053016.1:g.131186G>T
  • NM_000249.4:c.2250C>AMANE SELECT
  • NM_001167617.3:c.1956C>A
  • NM_001167618.3:c.1527C>A
  • NM_001167619.3:c.1527C>A
  • NM_001258271.2:c.2043C>A
  • NM_001258273.2:c.1527C>A
  • NM_001258274.3:c.1527C>A
  • NM_001354615.2:c.1527C>A
  • NM_001354616.2:c.1527C>A
  • NM_001354617.2:c.1527C>A
  • NM_001354618.2:c.1527C>A
  • NM_001354619.2:c.1527C>A
  • NM_001354620.2:c.1956C>A
  • NM_001354621.2:c.1227C>A
  • NM_001354622.2:c.1227C>A
  • NM_001354623.2:c.1227C>A
  • NM_001354624.2:c.1176C>A
  • NM_001354625.2:c.1176C>A
  • NM_001354626.2:c.1176C>A
  • NM_001354627.2:c.1176C>A
  • NM_001354628.2:c.2157C>A
  • NM_001354629.2:c.2151C>A
  • NM_001354630.2:c.2085C>A
  • NP_000240.1:p.Tyr750Ter
  • NP_000240.1:p.Tyr750Ter
  • NP_001161089.1:p.Tyr652Ter
  • NP_001161090.1:p.Tyr509Ter
  • NP_001161091.1:p.Tyr509Ter
  • NP_001245200.1:p.Tyr681Ter
  • NP_001245202.1:p.Tyr509Ter
  • NP_001245203.1:p.Tyr509Ter
  • NP_001341544.1:p.Tyr509Ter
  • NP_001341545.1:p.Tyr509Ter
  • NP_001341546.1:p.Tyr509Ter
  • NP_001341547.1:p.Tyr509Ter
  • NP_001341548.1:p.Tyr509Ter
  • NP_001341549.1:p.Tyr652Ter
  • NP_001341550.1:p.Tyr409Ter
  • NP_001341551.1:p.Tyr409Ter
  • NP_001341552.1:p.Tyr409Ter
  • NP_001341553.1:p.Tyr392Ter
  • NP_001341554.1:p.Tyr392Ter
  • NP_001341555.1:p.Tyr392Ter
  • NP_001341556.1:p.Tyr392Ter
  • NP_001341557.1:p.Tyr719Ter
  • NP_001341558.1:p.Tyr717Ter
  • NP_001341559.1:p.Tyr695Ter
  • LRG_216t1:c.2250C>A
  • LRG_216:g.62283C>A
  • LRG_216p1:p.Tyr750Ter
  • NC_000003.11:g.37092123C>A
  • NM_000249.3:c.2250C>A
Protein change:
Y392*
Links:
dbSNP: rs267607893
NCBI 1000 Genomes Browser:
rs267607893
Molecular consequence:
  • NM_000249.4:c.2250C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001167617.3:c.1956C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001167618.3:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001167619.3:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258271.2:c.2043C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258273.2:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258274.3:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354615.2:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354616.2:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354617.2:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354618.2:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354619.2:c.1527C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354620.2:c.1956C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354621.2:c.1227C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354622.2:c.1227C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354623.2:c.1227C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354624.2:c.1176C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354625.2:c.1176C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354626.2:c.1176C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354627.2:c.1176C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354628.2:c.2157C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354629.2:c.2151C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354630.2:c.2085C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Colorectal cancer, hereditary nonpolyposis, type 2 (LYNCH2)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Lynch syndrome II; MLH1-Related Lynch Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012249; MedGen: C1333991; Orphanet: 144; OMIM: 609310

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004186456Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jul 25, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004186456.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024