NM_000535.7(PMS2):c.1501G>A (p.Val501Met) AND Hereditary nonpolyposis colorectal cancer type 4

Clinical significance:Uncertain significance (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000987828.1

Allele description [Variation Report for NM_000535.7(PMS2):c.1501G>A (p.Val501Met)]

NM_000535.7(PMS2):c.1501G>A (p.Val501Met)

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.1501G>A (p.Val501Met)
HGVS:
  • NC_000007.14:g.5987264C>T
  • NG_008466.1:g.26843G>A
  • NM_000535.7:c.1501G>AMANE SELECT
  • NM_001322003.2:c.1096G>A
  • NM_001322004.2:c.1096G>A
  • NM_001322005.2:c.1096G>A
  • NM_001322006.2:c.1345G>A
  • NM_001322007.2:c.1183G>A
  • NM_001322008.2:c.1183G>A
  • NM_001322009.2:c.1096G>A
  • NM_001322010.2:c.940G>A
  • NM_001322011.2:c.568G>A
  • NM_001322012.2:c.568G>A
  • NM_001322013.2:c.928G>A
  • NM_001322014.2:c.1501G>A
  • NM_001322015.2:c.1192G>A
  • NP_000526.2:p.Val501Met
  • NP_001308932.1:p.Val366Met
  • NP_001308933.1:p.Val366Met
  • NP_001308934.1:p.Val366Met
  • NP_001308935.1:p.Val449Met
  • NP_001308936.1:p.Val395Met
  • NP_001308937.1:p.Val395Met
  • NP_001308938.1:p.Val366Met
  • NP_001308939.1:p.Val314Met
  • NP_001308940.1:p.Val190Met
  • NP_001308941.1:p.Val190Met
  • NP_001308942.1:p.Val310Met
  • NP_001308943.1:p.Val501Met
  • NP_001308944.1:p.Val398Met
  • LRG_161t1:c.1501G>A
  • LRG_161:g.26843G>A
  • NC_000007.13:g.6026895C>T
  • NM_000535.5:c.1501G>A
  • NM_000535.6:c.1501G>A
  • NR_136154.1:n.1588G>A
  • p.V501M
Protein change:
V190M
Links:
dbSNP: rs540287433
NCBI 1000 Genomes Browser:
rs540287433
Molecular consequence:
  • NM_000535.7:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322003.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322004.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322005.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322006.2:c.1345G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322007.2:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322008.2:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322009.2:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322010.2:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322011.2:c.568G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322012.2:c.568G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322013.2:c.928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322014.2:c.1501G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322015.2:c.1192G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136154.1:n.1588G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary nonpolyposis colorectal cancer type 4 (HNPCC4)
Synonyms:
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001137295Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137295.1

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

Last Updated: Nov 27, 2021

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