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NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) AND Lynch syndrome 4

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 4, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000662647.2

Allele description [Variation Report for NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)]

NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)

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.2156A>G (p.Gln719Arg)
HGVS:
  • NC_000007.14:g.5982842T>C
  • NG_008466.1:g.31265A>G
  • NM_000535.7:c.2156A>GMANE SELECT
  • NM_001322003.2:c.1751A>G
  • NM_001322004.2:c.1751A>G
  • NM_001322005.2:c.1751A>G
  • NM_001322006.2:c.2000A>G
  • NM_001322007.2:c.1838A>G
  • NM_001322008.2:c.1838A>G
  • NM_001322009.2:c.1751A>G
  • NM_001322010.2:c.1595A>G
  • NM_001322011.2:c.1223A>G
  • NM_001322012.2:c.1223A>G
  • NM_001322013.2:c.1583A>G
  • NM_001322014.2:c.2156A>G
  • NM_001322015.2:c.1847A>G
  • NP_000526.2:p.Gln719Arg
  • NP_001308932.1:p.Gln584Arg
  • NP_001308933.1:p.Gln584Arg
  • NP_001308934.1:p.Gln584Arg
  • NP_001308935.1:p.Gln667Arg
  • NP_001308936.1:p.Gln613Arg
  • NP_001308937.1:p.Gln613Arg
  • NP_001308938.1:p.Gln584Arg
  • NP_001308939.1:p.Gln532Arg
  • NP_001308940.1:p.Gln408Arg
  • NP_001308941.1:p.Gln408Arg
  • NP_001308942.1:p.Gln528Arg
  • NP_001308943.1:p.Gln719Arg
  • NP_001308944.1:p.Gln616Arg
  • LRG_161t1:c.2156A>G
  • LRG_161:g.31265A>G
  • NC_000007.13:g.6022473T>C
  • NM_000535.5:c.2156A>G
  • NM_000535.6:c.2156A>G
  • NR_136154.1:n.2243A>G
  • p.Q719R
Protein change:
Q408R
Links:
dbSNP: rs587782559
NCBI 1000 Genomes Browser:
rs587782559
Molecular consequence:
  • NM_000535.7:c.2156A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322003.2:c.1751A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322004.2:c.1751A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322005.2:c.1751A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322006.2:c.2000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322007.2:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322008.2:c.1838A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322009.2:c.1751A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322010.2:c.1595A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322011.2:c.1223A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322012.2:c.1223A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322013.2:c.1583A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322014.2:c.2156A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322015.2:c.1847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136154.1:n.2243A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000785334Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Jul 7, 2017) 		unknownclinical testing

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV004019838Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Uncertain significance
(Apr 4, 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 Counsyl, SCV000785334.2

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

From Myriad Genetics, Inc., SCV004019838.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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

Last Updated: Sep 29, 2024