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NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002486189.1

Allele description [Variation Report for NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly)]

NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly)

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.5303A>G (p.Asp1768Gly)
HGVS:
  • NC_000003.12:g.142499704T>C
  • NG_008951.1:g.84123A>G
  • NM_001184.4:c.5303A>GMANE SELECT
  • NM_001354579.2:c.5111A>G
  • NP_001175.2:p.Asp1768Gly
  • NP_001341508.1:p.Asp1704Gly
  • LRG_1403t1:c.5303A>G
  • LRG_1403:g.84123A>G
  • LRG_1403p1:p.Asp1768Gly
  • NC_000003.11:g.142218546T>C
  • NM_001184.3:c.5303A>G
Protein change:
D1704G
Links:
dbSNP: rs763130593
NCBI 1000 Genomes Browser:
rs763130593
Molecular consequence:
  • NM_001184.4:c.5303A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354579.2:c.5111A>G - 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
Name:
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Synonyms:
Cutaneous telangiectasia and cancer syndrome, familial
Identifiers:
MONDO: MONDO:0013806; MedGen: C3281203; Orphanet: 313846; OMIM: 614564

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002802095Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 16, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002802095.1

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

Last Updated: Oct 20, 2024