NM_001184.4(ATR):c.891G>C (p.Lys297Asn) AND Hereditary cancer-predisposing syndrome

Clinical significance:Benign (Last evaluated: Oct 23, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000210817.1

Allele description [Variation Report for NM_001184.4(ATR):c.891G>C (p.Lys297Asn)]

NM_001184.4(ATR):c.891G>C (p.Lys297Asn)

Gene:
ATR:ATR serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q23
Genomic location:
Preferred name:
NM_001184.4(ATR):c.891G>C (p.Lys297Asn)
HGVS:
  • NC_000003.12:g.142562511C>G
  • NG_008951.1:g.21316G>C
  • NM_001184.4:c.891G>CMANE SELECT
  • NM_001354579.2:c.891G>C
  • NP_001175.2:p.Lys297Asn
  • NP_001341508.1:p.Lys297Asn
  • LRG_1403t1:c.891G>C
  • LRG_1403:g.21316G>C
  • LRG_1403p1:p.Lys297Asn
  • NC_000003.11:g.142281353C>G
  • NM_001184.3:c.891G>C
  • Q13535:p.Lys297Asn
Protein change:
K297N
Links:
UniProtKB: Q13535#VAR_041586; dbSNP: rs2229033
NCBI 1000 Genomes Browser:
rs2229033
Molecular consequence:
  • NM_001184.4:c.891G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354579.2:c.891G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000266995Vantari Geneticscriteria provided, single submitter
Benign
(Oct 23, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Vantari Genetics, SCV000266995.1

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

Last Updated: Sep 6, 2021

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