NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser) AND Lynch syndrome I

Clinical significance:Benign (Last evaluated: Jul 24, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000144644.1

Allele description

NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser)

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_000535.6(PMS2):c.2324A>G (p.Asn775Ser)
Other names:
p.N775S:AAC>AGC
HGVS:
  • NC_000007.14:g.5977709T>C
  • NG_008466.1:g.36398A>G
  • NM_000535.6:c.2324A>G
  • NP_000526.2:p.Asn775Ser
  • LRG_161t1:c.2324A>G
  • LRG_161:g.36398A>G
  • LRG_161p1:p.Asn775Ser
  • NC_000007.13:g.6017340T>C
  • NM_000535.5:c.2324A>G
  • NP_000526.1:p.Asn775Ser
  • NR_136154.1:n.2368A>G
  • P54278:p.Asn775Ser
  • p.N775S
Protein change:
N775S
Links:
UniProtKB: P54278#VAR_016135; dbSNP: rs17420802
NCBI 1000 Genomes Browser:
rs17420802
Allele Frequency:
0.00037(C)
Molecular consequence:
  • NM_000535.6:c.2324A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136154.1:n.2368A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Lynch syndrome I (COCA1)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; See all synonyms [MedGen]
Identifiers:
MedGen: C2936783; Orphanet: 144; OMIM: 120435

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000189971Pathway Genomicsno assertion criteria providedBenign
(Jul 24, 2014)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

Borràs E, Pineda M, Cadiñanos J, Del Valle J, Brieger A, Hinrichsen I, Cabanillas R, Navarro M, Brunet J, Sanjuan X, Musulen E, van der Klift H, Lázaro C, Plotz G, Blanco I, Capellá G.

J Med Genet. 2013 Aug;50(8):552-63. doi: 10.1136/jmedgenet-2012-101511. Epub 2013 May 24.

PubMed [citation]
PMID:
23709753

Long-range PCR facilitates the identification of PMS2-specific mutations.

Clendenning M, Hampel H, LaJeunesse J, Lindblom A, Lockman J, Nilbert M, Senter L, Sotamaa K, de la Chapelle A.

Hum Mutat. 2006 May;27(5):490-5. Erratum in: Hum Mutat. 2006 Nov;27(11):1155.

PubMed [citation]
PMID:
16619239
See all PubMed Citations (4)

Details of each submission

From Pathway Genomics, SCV000189971.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 14, 2018

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