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NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter) AND Lynch syndrome 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 21, 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:
RCV003454638.1

Allele description [Variation Report for NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)]

NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)

Gene:
PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p22.1
Genomic location:
Preferred name:
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)
HGVS:
  • NC_000007.14:g.5982843G>A
  • NG_008466.1:g.31264C>T
  • NM_000535.7:c.2155C>TMANE SELECT
  • NM_001322003.2:c.1750C>T
  • NM_001322004.2:c.1750C>T
  • NM_001322005.2:c.1750C>T
  • NM_001322006.2:c.1999C>T
  • NM_001322007.2:c.1837C>T
  • NM_001322008.2:c.1837C>T
  • NM_001322009.2:c.1750C>T
  • NM_001322010.2:c.1594C>T
  • NM_001322011.2:c.1222C>T
  • NM_001322012.2:c.1222C>T
  • NM_001322013.2:c.1582C>T
  • NM_001322014.2:c.2155C>T
  • NM_001322015.2:c.1846C>T
  • NP_000526.2:p.Gln719Ter
  • NP_001308932.1:p.Gln584Ter
  • NP_001308933.1:p.Gln584Ter
  • NP_001308934.1:p.Gln584Ter
  • NP_001308935.1:p.Gln667Ter
  • NP_001308936.1:p.Gln613Ter
  • NP_001308937.1:p.Gln613Ter
  • NP_001308938.1:p.Gln584Ter
  • NP_001308939.1:p.Gln532Ter
  • NP_001308940.1:p.Gln408Ter
  • NP_001308941.1:p.Gln408Ter
  • NP_001308942.1:p.Gln528Ter
  • NP_001308943.1:p.Gln719Ter
  • NP_001308944.1:p.Gln616Ter
  • LRG_161t1:c.2155C>T
  • LRG_161:g.31264C>T
  • NC_000007.13:g.6022474G>A
  • NM_000535.5:c.2155C>T
  • NM_000535.6:c.2155C>T
  • NR_136154.1:n.2242C>T
  • p.Gln719*
Protein change:
Q408*
Links:
dbSNP: rs876659480
NCBI 1000 Genomes Browser:
rs876659480
Molecular consequence:
  • NR_136154.1:n.2242C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000535.7:c.2155C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322003.2:c.1750C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322004.2:c.1750C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322005.2:c.1750C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322006.2:c.1999C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322007.2:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322008.2:c.1837C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322009.2:c.1750C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322010.2:c.1594C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322011.2:c.1222C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322012.2:c.1222C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322013.2:c.1582C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322014.2:c.2155C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322015.2:c.1846C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Lynch syndrome 4 (LYNCH4)
Synonyms:
Colorectal cancer, hereditary nonpolyposis, type 4; Hereditary non-polyposis colorectal cancer, type 4
Identifiers:
MONDO: MONDO:0013699; MedGen: C1838333; Orphanet: 144; OMIM: 614337

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004188624Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Sep 21, 2023) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004188624.1

#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: Oct 8, 2024