NM_001184.4(ATR):c.891G>C (p.Lys297Asn) AND Seckel syndrome 1

Clinical significance:Benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001147814.1

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:
Seckel syndrome 1 (SCKL1)
Synonyms:
MICROCEPHALIC PRIMORDIAL DWARFISM I
Identifiers:
MONDO: MONDO:0008869; MedGen: C4551474; Orphanet: 808; OMIM: 210600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001308660Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Mutation analysis of the ATR gene in breast and ovarian cancer families.

Heikkinen K, Mansikka V, Karppinen SM, Rapakko K, Winqvist R.

Breast Cancer Res. 2005;7(4):R495-501. Epub 2005 May 6.

PubMed [citation]
PMID:
15987455
PMCID:
PMC1175065

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001308660.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Sep 6, 2021

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